CoA Therapeutics successfully completes Phase 1 trial for possible PKAN therapy, discusses next steps

April 2022

By Patricia Wood

San Francisco-based CoA Therapeutics reports that it has successfully completed the Phase I study of healthy volunteers for a potential drug compound for Pantothenate Kinase-Associated Neurodegeneration (PKAN).

CoAThe Phase 1 trial of BBP 671 examined the safety, tolerability and effects of the drug on healthy volunteers, such as absorption rate, effect on metabolism, how it is excreted and how it is distributed throughout the body. The goal was to not only assess the drug’s safety but to determine a suitable dose and identify any potential problems before advancing to testing in PKAN individuals.

The company will present its findings at the 4th Pan American Parkinson’s Disease and Movement Disorders Congress, May 26 to 28, in Miami, Florida. CoA Therapeutics also will share study results later this year with our community, in addition to informing other scientists, clinicians and companies working on PKAN therapies.

The NBIA Disorders Association and several other NBIA patient organizations helped CoA Therapeutics develop an anonymous survey of PKAN individuals for assessing the compound’s effects when it moves to testing in affected individuals. Survey participants gave feedback on cognitive abilities, physical limitations, performance of daily activities and impact of travel. In all, 183 surveys from 23 countries were completed. Based on that feedback, the company decided to use the drug in small tablet form for the PKAN trial. (You can read a summary of the survey results here).

CoA Therapeutics says the company is focused on two activities this year: improving the formulation of compound BBP-671 and getting feedback on the clinical trial design from regulators in the European Union (European Medicines Agency) and the United States (Food and Drug Administration). Company officials will meet with regulatory authorities later this year and hope to have clinical sites open in the US and Europe by mid-2023. Anna Wade, vice-president of operations said, “We appreciate that time is of the essence for individuals with PKAN and their families, and we are moving as fast as possible.”

BPAN research gets boost from 2021 Million Dollar Bike Ride

April 2022


Dr. Young Ah Seo from the University of Michigan
School of Public Health in Ann Arbor, Michigan.

A University of Michigan researcher was awarded a new grant to continue her work into seeking potential treatments for BPAN, now the most common form of NBIA.

Dr. Young-Ah Seo received a one-year grant of $66,366 from the annual Million Dollar Bike Ride. Money raised by NBIA families and friends was matched up to $30,000 by the University of Pennsylvania Orphan Disease Center.

“The overall goal of this project is to develop new therapeutic strategies that can reduce brain iron overload and iron-induced neurodegeneration in BPAN patients,” Seo says. “We previously identified that a naturally occurring small molecule is exceptionally effective at promoting iron mobilization.”

The goal now is to use cell models derived from BPAN individuals to test whether that small molecule can be used to stave off the damage the disorder causes.

Seo completed a study in August 2021, “Defining the Roles of Iron in BPAN,” after receiving a first-ever early-career research grant from the NBIA Disorders Association for $150,000 in 2018.

That study’s objective was to identify the key proteins and pathways that are associated with the brain’s iron accumulation when the WDR45 gene is deficient in individuals with Beta-propeller protein-associated neurodegeneration. The study also examined how neurodegeneration is affected by the altered iron uptake and metabolism.

Seo’s team created a cell model of BPAN without the WDR45 gene, which showed increased levels of iron, suggesting it accurately reflected the condition seen in individuals with BPAN.

Additionally, they observed that the accumulation of iron within the model was linked to an impairment in the process that aims to prevent a dangerous amount of iron from being stored in the brain. Lastly, the deficiency in the WDR45 gene’s protein led to an excess of iron in the mitochondria, altered the mitochondrial metabolism and caused overproduction of toxic reactive oxygen species, which are highly reactive molecules that can lead to cell damage.

The findings of the first study have been published in the Journal of Neurochemistry, titled "A neurodegeneration gene, WDR45, links impaired ferritinophagy to iron accumulation."

Seo’s Million Dollar Bike Ride-funded research, titled “Reversing Brain Iron Overload in BPAN by a Natural Small Molecule,” continues the work of the prior grant and aims to develop new therapeutic strategies that can reduce the iron accumulation in the brain and the resulting neurodegeneration in patients with BPAN.

Seo says that she is “very happy to be awarded the BPAN grant,” and is “looking forward to working on this project.” She also says that she plans to apply for a federal grant from the National Institutes of Health to further that research. First, however, she says she needs to wait on “more preliminary data from BPAN animal models as well as the preliminary data from this new grant.”



Board installs new vice president, bids farewell to longtime trustee

April 2022


Amber Denton of Houston is the new
vice president of the NBIA Disorders Association.

The NBIA Disorders Association Board of Trustees has elected Amber Denton of Houston to be its new vice president. She is a prolific fundraiser for the organization, chair of the board’s Development Committee and the mother of a daughter with BPAN.

Denton, an instructional specialist in an elementary school, joined the board in fall 2019. She has been raising awareness about NBIA and hosting community fundraising events to support the organization even before becoming a trustee. She helps plan and leads efforts for the organization’s major fundraising events, including Rare Disease Day, the Million Dollar Bike Ride and GivingTuesday.

When her daughter, Sydney, was diagnosed with BPAN, she wrote a book, Sydney’s Song, that described how her daughter communicates with song instead of words.

Matthew Ritzman, board of trustees chair, says that Denton is “considerate, dedicated, organized, respectful and thoughtful. … At every turn she has devoted increasing efforts to our cause. There is nobody in or out of the organization that is better fit for the position of VP than Amber.”


Mary Ann Roser of Austin,
former vice president.

Denton succeeds Mary Ann Roser as vice president. Roser joined the board in 1998 and has helped with the newsletter and other writing and editing for the organization.

She stepped down from the board Dec. 31, 2021, but continues to volunteer and edit the newsletter.

Ritzman expressed gratitude for Roser’s work over the years. “I always appreciated [her] commitment to the NBIA Disorders Association” and how she “helped establish the very foundation of this organization and kept us focused,” he said. “I will miss her wit, tenacity, transparency and boldness in our planning and board meetings.”



An NBIA Disorders Association intern describes growing up with an affected sibling

April 2022

By Katherine Fox


Kevin and me at one of his
Miracle League Games, circa 2010.

The bond between siblings is undeniably special, but being the sibling of someone who has a disability has its own kind of uniqueness. My older brother, Kevin, was diagnosed with PKAN when I was very young. And even as the youngest of three children, I was a close participant in Kevin’s NBIA journey.By age 7, I was much more acquainted with doctor visits and hospitals than my peers. But I also was introduced to an amazing community of people who I otherwise wouldn’t have known.When I was about 10, most of my Friday nights were spent at Kevin’s Miracle League games, a guaranteed bright spot in my week.

It was comforting gathering with others who understood the intricacies of how a family dynamic is shaped when someone has special needs. The sense of community at those events was indescribably special, and I felt extremely lucky to be a part of it. I’ve learned there’s a lot you can’t control when you grow up with a terminally-ill sibling. I couldn’t control how he felt, the status of his health or the available treatment options. It was hard at times, but witnessing Kevin’s never-ending strength and perseverance helped me through it all.At the end of the day, there was nothing better than seeing his huge smile while we watched “Sesame Street” every night. Little moments like that are among my most cherished. When I entered the scary world of high school, Kevin’s smile had the power to make any school stress or drama fade into the background.


Kevin, our sister Madeline, and
me on his 20th birthday.

Although I didn’t have much involvement with the NBIA Disorders Association as a child, I knew as I grew older I wanted that to change. As part of my undergraduate degree, I am required to complete an internship with an organization of my choosing. I’ve been fortunate to do that internship with NBIA Disorders Association. It has helped me grow as a writer and learn so much about NBIA, and, in turn, my brother. Now I feel closer to him than ever, and I’m grateful that this educational experience gave me that opportunity.



Dr. Susan Hayflick named Rare Champion of Hope

Hayflick awardDecember 2021

For her deep commitment and enduring service to the NBIA community,  Dr. Susan Hayflick of the Oregon Health & Science University received the “Rare Champion of Hope in Medical Care and Treatment” award from Global Genes. 

This award celebrates medical and health care professionals who have made significant contributions to clinical care and treatment of rare conditions. Hayflick was nominated by the NBIA Disorders Association Board of Trustees in recognition of her 30 years of dedication to the NBIA community. 

Global Genes, a leading rare disease patient advocacy organization, annually recognizes and celebrates inspiring individuals who work to improve the lives of individuals with rare disorders. It presented the 2021 awards at a ceremony in Philadelphia in November, held in-person and virtually.

“Dr. Hayflick is the one constant who has been working on NBIA since before most of

us ever heard of it,” NBIA Disorders Association Vice President Mary Ann Roser said on behalf of the board. “She is a source of hope for all of us — for NBIA individuals, their families, the board members and the entire NBIA community.”

Hayflick thanked the worldwide NBIA community for the award, saying, “you are my family.” She spoke of being driven by hope, calling it her “fuel” and “the glue that holds groups together, whether in a laboratory, or at home or in an advocacy community. …Without hope, there is not a path forward, but with hope, everything is possible.”

For the past 25 years, Hayflick has served as the director of the association’s Scientific & Medical

Advisory Board, in addition to being the premier NBIA researcher, expert and supportive physician-friend to patients and families the world over. Her journey began in Buffalo, New York, in 1991 when she received a call from a neurologist who asked for her opinion on a devastating neurological condition affecting three of the four children of an Amish couple who lived nearby. All three children were ultimately diagnosed with PKAN, one of the most common forms of NBIA. The family’s plight touched Hayflick heart and inspired her to look for the gene responsible for the disease.

She has since worked tirelessly to understand NBIA disorders and develop treatments for affected individuals. She, her team and collaborators around the world have discovered such NBIA genes as PANK2 for PKAN, PLA2G6 for PLAN, FA2H for FAHN and WDR45 for BPAN

At OHSU in Portland, Hayflick is a professor and chair of the Department of Molecular & Medical Genetics. Her lab is working with collaborators on a clinical trial for treating PKAN in which patients can receive the compound being tested, CoA-Z, in their community, without having to travel to Oregon. That innovation may become a model for the rare disease community on how to run a clinical trial in a way that prioritizes convenience for patients and families. Travel to a trial site is a known barrier to clinical trial participation, especially in the rare disease community.

In accepting the Rare Champion of Hope award, Hayflick told the audience to “find hope, foster hope, create hope, be hopeful, as I am.”



New $115,000 grant awarded to study possible PKAN therapy

December 2021

A Yale University professor has received a research grant worth $115,000 that could help lead to a treatment for PKAN, the second most common form of NBIA.


Choukri Ben Mamoun, Ph.D.,
at Yale University, receives grant
for $115,000 to study PKAN.

Choukri Ben Mamoun, Ph.D., a professor of medicine (infectious diseases) and microbial pathogenesis at Yale, won the “Best Presentation” award in Yale Lifesciences PITCHFEST 2020 for his work on a possible treatment for Pantothenate Kinase-Associated Neurodegeneration (PKAN). That award prompted three NBIA patient organizations—the NBIA Disorders Association, Hoffnungsbaum e.V., in Germany and AISNAF in Italy—to collaborate on making the grant, in August. 

Ben Mamoun also received the Blavatnik Award this year, which is awarded by the Blavatnik Fund for Innovation at Yale University to select projects after a competitive application process. The $300,000 award provides additional seed funding for the PKAN project.

The NBIA groups’ research grant to Ben Mamoun is titled “A High-Throughput Screen for PKAN Reversing Agents.” The goal is to look for small molecules that restore normal function in cells that are deficient in the PANK2 gene, which is impaired in PKAN individuals.

PANK2 directs the production of pantothenate kinase, which is involved in the execution of several essential biochemical reactions in the body. So, a drug that restores or mimics the function of the PANK2 gene could be effective in treating PKAN.

Ben Mamoun will look for small molecules to create a drug that can activate a second Pank enzyme to compensate for the loss of PANK2. The hope is such a drug could restore neurological function in PKAN individuals. The research also will evaluate the safety and efficacy of this novel treatment by conducting tests in the lab and in mouse models.

Previously, Ben Mamoun’s research focused on developing new antimicrobial compounds that do not inhibit human enzymes. Instead, Mamoun’s team discovered that their compounds not only inhibited the human enzyme but that nine of them activated it. That discovery fueled Ben Mamoun’s interest and opened up the possibility to treat PKAN by using the novel compound to activate the gene that causes PKAN.



Research expands BPAN knowledge on how iron accumulates in brain

December 2021


Dr. Young Ah Seo from the University of Michigan
School of Public Health in Ann Arbor, Michigan.
Work from this grant has been published in the
Journal of Neurochemistry.

Dr. Young Ah Seo’s recently completed research, “Defining the Roles of Iron in BPAN,”  has generated new information about how iron accumulates in the brains of individuals with Beta-propeller Protein-associated Neurodegeneration (BPAN), the most common form of NBIA. 

Seo, an assistant professor in the department of nutritional sciences at the University of Michigan School of Public Health in Ann Arbor, and her team, observed that the dysfunctional WDR45 gene in BPAN led to impaired iron storage in the brain, causing iron to build up to a toxic level that damages cells.

In 2018, Seo received the first-ever early-career research grant from the NBIA Disorders Association, for $150,000. Although the grant work was meant to be completed in two years, Seo received a one year, no-cost extension because of delays caused by the pandemic.

Her team’s goal was to identify the major proteins and pathways involved in iron accumulation when the WDR45 gene is deficient and how the altered iron uptake and metabolism contribute to neurodegeneration.

The WDR45 gene is involved in autophagy, a natural process that helps clear unnecessary materials from cells. Exactly how the mutated gene also leads to iron accumulation in the brain has not yet been fully understood, so Seo and her team sought to unravel the mystery.

They successfully generated a cell model of BPAN in which the WDR45 gene was deleted. They saw significantly elevated iron levels in this model, suggesting that it accurately mimicked the condition seen in individuals with BPAN.

They found that the absence of the gene’s protein, also named WDR45 (when not italicized it refers to the protein), led to significant changes in the pathways that are responsible for the uptake and regulation of iron in cells. This may be the basis of brain iron accumulation.

They also observed that the overload of iron in cells in this model was associated with impaired ferritinophagy. This is a form of autophagy that degrades a protein responsible for iron storage in cells, called ferritin. Essentially, the process that helps prevent excessive iron storage was impaired.

Finally, they observed that WDR45 deficiency led to excessive iron accumulation in the mitochondria, altered mitochondria metabolism and overproduction of toxic reactive oxygen species (unstable molecules that easily react and cause cell damage). This may contribute to the neurodegeneration seen with BPAN.

All together, these findings suggest a potential underlying cause of disease to explain how iron accumulates in BPAN. 

Seo’s work from this grant has been published in the Journal of Neurochemistry, titled “A neurodegeneration gene, WDR45, links impaired ferritinophagy to iron accumulation”. She intends to seek new funding to expand on the project’s findings. 



Planned grant for MPAN research reflects joint effort with newly defined priorities

December 2021

The NBIA Disorders Association is teaming up with three European sister organizations to seek proposals for an MPAN research grant worth about $160,000.

Aisnaf logoThe collaborative grant-making effort has financial support from our organization, as well as AISNAF (Italy), Hoffnungsbaum e. V., (Germany) and Stichting Ijzersterk, (Netherlands). We are inviting selected researchers to submit a proposal for the Mitochondrial-membrane Protein-Associated Neurodegeneration (MPAN) study, with the aim of awarding a grant in May 2022.

Hoffnungsbaum logo.jpgThe call for proposals is the outcome of a coordinated process to identify MPAN research priorities. AISNAF, Hoffnungsbaum e.V., and our organization recognized the need for an MPAN Landscape Analysis in 2020, which is a comprehensive study of the global research done to date on MPAN. We reached this conclusion after failing to receive viable proposals in 2018 and 2019 for MPAN. We then hired Science Compass, led by Dr. Francesca Sofia, to facilitate the research review process.

Stichting logoThis included a thorough examination of the scientific literature on MPAN, NBIA, and other relevant diseases, as well as information from publicly available institutional websites and databases. Several researchers with longstanding expertise in NBIA disorders participated in interviews conducted between June and July 2020. The landscape resulting document provided a platform for discussions held during a two-day virtual workshop in October 2020. 

The workshop participants, including researchers, clinicians and patient organization representatives, identified and prioritized two key objectives for understanding and potentially treating MPAN.  

The first priority is to foster basic research that is crucial to advance our understanding of the C19orf12 gene that causes MPAN, and its associated protein. Although C19orf12 was discovered in 2011, its function and role in disease remains largely unknown. The disease accounts for approximately 5% of all NBIA cases. Between 2011 and 2019, a total of seven research projects studied MPAN, including those by our organization, NBIA Switzerland, NBIA Poland and Hoffnungsbaum e.V. But there is still much to be learned about this disease.

The second priority is to develop new disease models, both in the lab and within the patient population. Additionally, efforts must be made to investigate and categorize the range of symptoms and disease features. To date, no clinical or observational trials have been conducted on MPAN, so we lack comprehensive data describing symptoms and outcomes. Finally, researchers need to determine which tissues are likely to be affected by mutations to C19orf12.

Basic research can provide the foundation for insights with the potential for therapeutic interventions in MPAN. No drug or therapy has yet been found to modify MPAN. In theory, gene therapy offers promise, but at this stage, it is only a concept. Research may uncover the benefit of other drugs, including ones now used for other diseases.

Overall, the consensus from the roadmap highlights the need for translational research, which bridges scientists, clinicians and patients together. It allows for basic research to be more quickly translated into practical applications for patients, a priority identified in the strategic planning process.

We are hopeful that our knowledge of MPAN will grow, and that there will be help for MPAN families who have been waiting for years to see a breakthrough in research and potential treatments.



NORD webinar focuses on the power of advocacy

December 2021

A November webinar our organization held featuring two speakers from the National Organization for Rare Disorders (NORD) provided motivational examples of how NBIA families can use their passion and personal stories to promote awareness and advocate for NBIA disorders.

Debbie Drell 

Debbie Drell

Kristen Angell 

Kristen Angell

Debbie Drell, NORD’s director of membership, and Kristen Angell, NORD’s associate director of advocacy, emphasized the power of individuals telling their unique story with passion and originality. “Your story is the most valuable tool you have to be an effective advocate,” Angell said at the webinar entitled, “How Can Rare Families Fight Back?”

Angell and Drell urged families be willing to share their stories and to take part in Rare Disease Day 2022 on Feb. 28. As an example of the impact of compelling storytelling, the NBIA Disorders Association video for NORD Rare Disease Day 2021 spotlighted our families and attracted over 17,000 views. It won an award from NORD for best video and resulted in NORD providing speakers for the webinar.

Other ways the webinar speakers said that families can fight back against rare disorders and have an impact include:

  • Meeting with legislators to raise their awareness, share information and support legislative proposals
  • Bringing awareness to your local community. Fundraisers and stories in the local media are just two ways to do this.
  • Signing up for the Rare Disease Network® (RAN), the nation’s leading advocacy network for rare disorders
  • Joining discussion groups
  • Taking part in Rare Disease Day and use the social media tags, #showyourstripes  #RareDiseaseDay
  • Being creative

The Colosseum in Rome Lights Up for Rare

One creative awareness-raising project, Light Up for Rare, involves asking monuments and public buildings around the world to, literally, shine a spotlight on rare disorders. The NORD speakers said they were proud during Rare Disease Day last year to get the Empire State Building lit up, as well as the National Institutes of Health. Other famous sites that have participated include the Colosseum in Rome, the Leaning Tower of Pisa in Italy, the Eiffel Tower in Paris and Niagara Falls in New York. In addition, many of the world’s tallest buildings were lit up last year, they said.

They mentioned it was virtually impossible to get the White House to light up for a cause, but an NBIA parent on the webinar, Paul Stronski, of Arlington, Virginia, said he would encourage his White House contacts and ask.  Stronski also said he would try to get the Carnegie Endowment on Massachusetts Avenue involved as well.

The webinar also included ideas on how to promote policy and advocacy on local, state, and federal levels, including campaigns organized and supported by NORD.  

The Rare Action Network (www.rareaction.org) is a powerful resource, the speakers said. It offers discussion forums, state report cards outlining state-based policies, action centers for each state, educational tools and training workshops. Joining RAN is an easy way to connect with others and receive alerts about important events and campaigns that affect rare disease families in your area. It even offers coloring pages you can download for the kids.

In 2022, RAN will relaunch their state ambassador program, selecting and training volunteers to become leaders for establishing and building networks within their state.

Rare Disease Day offers families a perfect time to get involved and raise awareness of NBIA disorders. The global reach of the platform grows larger year by year. Visit www.rarediseaseday.org and start preparing to have an impact.

You can view the webinar for more information on ways to be an advocate for NBIA disorders. WEBINAR



NBIA Disorders Association celebrates 25 years

25th AnniversaryJune 2021

This is a year of celebration for the NBIA Disorders Associations as we mark 25 years of service to the NBIA community.

We invite everyone to attend a virtual birthday party to be held on Sept. 26 at 1 p.m. Pacific time, 4 p.m. Eastern. It will be a quick 30 minutes with appearances from key individuals and other surprises. A Zoom link for the party will be sent out to everyone on our newsletter mailing list via email and posted online in September.

Leading up to this celebration we have our 25th Anniversary Tributes underway that everyone can participate in and share with those who have made a difference in their lives. Check out our Celebration site where you can create and send a tribute to anyone: researchers, doctors, teachers, caregivers, NBIA families and individuals. Let them know how they have helped you on your journey or been an inspiration in your life. 

You can also make a donation or become a Partner in Hope as a monthly donor and help us achieve our goals and continue our mission of educating the public, providing support to families and funding research. Those making tributes and/or donations at $250 or above will be part of our 25th Anniversary Celebration Wall at either the bronze, silver, gold or platinum level.

Cheers to 25 years!


Team NBIA Disorders wins BPAN funding as deadline for letter of interest looms

Orphan Disease Centermdbr fundraisingJune 2021

Once again, Team NBIA Disorders has qualified for the maximum matching grant to fund BPAN research through the Million Dollar Bike Ride organized by the University of Pennsylvania's Orphan Disease Center.

BPAN researchers who are considering making a research proposal have until 8 p.m. Eastern Time Sept. 16, 2021, to submit letters of interest.

This year’s Million Dollar Bike Ride on June 12 was the 8th annual and marked the second year the event was held virtually because of the COVID-19 pandemic. But that didn’t stop Team NBIA Disorders. For the fifth consecutive year, the team won the match — $30,000 this year — making a total of $66,366 available for BPAN research.

MDBR2021 1MDBR2021 2

Noah Rusch from Germany invited friends and family to ride their bikes to his home with a donation, and in turn, the family served them cold drinks and freshly baked pizza from their wood-fired oven. They received over 60 visitors bringing donations and raised over $3500 for the MDBR..

NBIA families and friends raised most of the funds in about two months, a record time frame. And for the second year, our sister organization in Germany, Hoffnungsbaum e. V., encouraged their families to help. They generously contributed $5,000 to our total.

Although UPenn's Orphan Disease Center will manage the grant, our organization is closely involved. We ensure that it matches our BPAN research priorities, and members of our Scientific & Medical Advisory Board who do not have any conflicts of interest will review the submissions, along with other ad hoc reviewers. At the completion of the grant award, we will get a report on the research to distribute to our NBIA community.

We have notified scientists in our research database about this opportunity to compete for the BPAN grant. They can visit here to submit a letter of interest. Guidelines for the request for applications (RFA) form can be found here. Those proposals will be due Oct. 18, 2021, no later than 8 p.m. (EST). Full application documents are to be uploaded on UPenn’s Orphan Disease Center website, by invitation only after submitting a letter of interest.


BPAN families have a new way to share data, accelerate research

- By Patricia Wood

RareX logoJune 2021

BPAN individuals and families are invited to share health information about the disorder on a new, secure platform so that researchers will have access to far more information than would otherwise be possible.

Launched Aug. 6, the RARE-X BPAN Federated Data Platform is designed to encourage data-sharing  and, thus, quicken the spread of information and the pace of research into BPAN. The platform is free for families to use. Importantly, it keeps health information confidential by providing only data that is not attached to individual names. Individuals and families affected by Beta-propeller Protein-Associated Neurodegeneration (BPAN), believed to be the most common NBIA disorder, control whether to allow or deny access to their personal health information for any research project.

RareX PrinciplesRARE-X BPAN asks BPAN families about their experiences with the condition through various structured and standardized surveys on various topics which can be updated by families as needed. A researcher who is studying mitochondria, for example, can do a query for all relevant information on a specific symptom and might find similarities across various diseases that provide insights and new treatment pathways.

The platform is currently open to BPAN families who speak English. Those wishing to participate  can access the site at https://bpan.rare-x.org. Translation services are not yet available, but RARE-X hopes to provide this feature in the coming year. It also plans to add more rare disorders as time goes on.

Our community has gotten in on the ground floor with RARE-X, a newly formed nonprofit, along with five other organizations that represent individuals with BPAN: Hoffnungsbaum e. V. in Germany, Stichting Ijzersterk in the Netherlands, and three BPAN-only focused organizations: BPAN Warriors in the U.S., BPAN France, and Autour du BPAN, also in France.

Rare-X was created by leaders in the fields of patient advocacy, medical research, biopharma and technology. The founder and executive director of the nonprofit is Nicole Boice who founded Global Genes.

Megan O’Boyle, patient engagement lead at RARE-X, spoke at our May family conference about the program (you can see the video here). It has closed captions enabled and can be watched in multiple languages. We are hopeful that other NBIA disorders can be added to the platform in the future.

The initiative is powered by some of the great leaders in rare disease and supported through partnerships with the Broad Institute and Harvard University. In addition, expertise is provided by the National Institutes of Health,  private and commercial enterprises, academia and rare patient advocacy groups.

RARE-X provides support, technology, tools and resources necessary for successful data collection, and secure but open data sharing on a global scale. The organizers believe that by removing barriers to access and analysis, diagnosis, and disease understanding, the development of therapies for rare disorders can be accelerated.

This platform does not replace other forms of data collection that we have available in our NBIA community with BPANready, Citizen and the TIRCON International NBIA Registry & Biobank. In fact, these existing projects can be connected to the RARE-X platform and expand the data available to interested researchers.

We believe RARE-X BPAN enhances our readiness for clinical trials and engages new researchers and biotech companies. It is cloud-based and researchers can query the database in myriad ways to find data that is brought together rather than in separate silos. The de-identified data never leaves the system. Researchers can link to it but cannot download it.

We are excited about this resource and its potential to lead to faster treatments and cures.


Study brings new insights on BPAN defective gene

Dr. Lena F. Burbulla 

Dr. Lena F. Burbulla, of the Biomedical Center
at Ludwig-Maximilians-University in Munich,
received a 2019 BPAN research grant funded by
AISNAF in Italy, Hoffnungsbaum e.V., in Germany,
and the NBIA Disorders Association

June 2021

A recent study of Beta-propeller Protein-Associated Neurodegeneration (BPAN) gained promising preliminary insights in how the defective BPAN gene may cause breakdowns in the cell clean-up process as well as iron accumulation.

BPAN is now believed to be the most common of the NBIA disorders.

The research on the mutated BPAN gene, WDR45, was led by Dr. Lena Burbulla who was working at Northwestern University in Chicago at that time. She received a 2019 grant for 65,000 euros, equal to about $73,000.

The grant was funded by AISNAF in Italy, Hoffnungsbaum e.V., in Germany, and the NBIA Disorders Association. AISNAF managed the grant.

The WDR45 gene is involved in autophagy, a mechanism by which unneeded components of the cells are broken down and recycled. To date, it is not clear how the mutated gene leads to the brain iron accumulation, along with all of the disease features observed in patients with BPAN.

In the study, Burbulla first generated neurons from induced pluripotent stem cells (iPSCs) derived from small flaps of patients' skin. She examined the neurons’ autophagy process, which ultimately leads to the breakdown of proteins in the lysosomes. Lysosomes are organelles, i.e. "small organs" within a cell, and are mainly involved in collecting cell waste and transporting it outside the cell. The lysosomes in BPAN neurons probably have defects and are only able to dispose of proteins and cell organelles to a limited extent. This could also affect iron-binding proteins, among other things.

If confirmed in further studies, it could be a possible explanation for the pathological accumulation of iron observed in the neurons of BPAN patients. When examining the neurons, an accumulation of neuromelanin was also found, which may be due to poor iron regulation. Neuromelanin is, in fact, one of the molecules that can bind iron and typically is present in dopaminergic neurons — the neurons most affected in BPAN.

Another project goal was to create more sophisticated models of the disease. Using the pluripotent stem cells of patients, Burbulla was able to create three-dimensional cellular structures that, although much simpler than the human brain, allowed her to mimic and study the pathology in a system similar to a small brain. Analysis has confirmed that mini-brains contain structures typical of regions of the brain affected by BPAN, and have shown defects similar to those observed in simpler cell models, such as decreased lysosomal enzymes and neuromelanin accumulation.

The project’s third objective was to explore therapeutic strategies. Preliminary results using antioxidant molecules showed a partial improvement in defects in the models. Ultimately, the findings, while preliminary, opens up new and interesting perspectives on the functions of the WDR45 gene.

Burbulla recently moved to the Biomedical Center at Ludwig-Maximilians-University in Munich, where she heads the "oxDOPAMINE" project funded by the European Research Council as part of the SyNergy Cluster of

Excellence. In this project, she will investigate why nerve cells in the midbrain are susceptible to an accumulation of the oxidized neurotransmitter dopamine and subsequently degenerate. Because she suspects that in addition to a defective dopamine metabolism a disturbed iron balance also plays a critical role, she wants to focus on rarer neurodegenerative diseases in addition to the relatively common Parkinson's disease. BPAN research will be included in her work.


CoA Therapeutics launches phase 1 PKAN drug study

CoA logoJune 2021

CoA Therapeutics Inc., in April began a phase 1 study of the safety of a potential drug for Pantothenate Kinase-Associated Neurodegeneration (PKAN) by testing it in healthy volunteers.

The CoA Therapeutics team plans to begin clinical trials in PKAN patients in late 2022, once it is determined that the drug candidate they are calling BBP-671 is safe and a suitable dose for PKAN patients has been determined.

PKAN is one of the most common NBIA disorders.

The necessary preclinical animal studies with BBP-671 have been completed, and the Food and Drug Administration has approved the company’s application for the use of the Investigational New Drug in humans. Orphan drug designation has also been granted in both the US and Europe.

The patented compound changes the action of pantothenate, a key enzyme involved in metabolism, as it’s converted into CoA. CoA is deficient in PKAN individuals. The drug is a unique synthetic molecule that can immediately relieve  the movement disorder and extend the life span in a mouse model with brain CoA deficiency. It compensates for the missing CoA, and the company hopes it will have a similar affect in PKAN individuals.


Register now for our first-ever virtual family conference

2021 conference logoApril 2021

Time is running out to register for the 11th International NBIA Disorders Association Family Conference to be held online only from May 20 to 23. The deadline is May 14.

We hope you will join us for our first-ever virtual conference as we mark 25 years of service to the NBIA community. Sessions will be held over the four days with NBIA individuals, families, caregivers, researchers, clinicians and biotech leaders from around the world.

Our agenda includes inspirational speakers, research updates from our NBIA scientists, disease-specific clinical sessions, information on advocating for your child and building resiliency, as well as other topics of interest to all NBIA families.

In addition to learning from our speakers, we will be offering many opportunities for NBIA individuals and families to engage and share information with each other. Time has been built in for relaxation, with meditation and yoga, and a dance party hosted by our very own DJ Mike on Saturday in honor of our organization’s founding 25 years ago in 1996.

We are happy to announce and publicly thank our sponsors who are helping to make this conference possible. Our premier sponsor is INADcure Foundation whose mission is to help find a cure for PLAN, one of the more common NBIA disorders. Our other sponsors are industry partners CoA Therapeutics Inc., Travere Therapeutics Inc., Chiesi USA Inc. and in-kind sponsor 4Gen Digital who created our online conference merchandise shop.

We can’t wait to gather with each of you — old friends and new members of our worldwide NBIA community.


INADcure logo

 CoA Therapeutics logo Travere Therapeutics logo

Chiesi USA logo4Gen Digital logo



Fundraising race is on for Million Dollar Bike Ride

MDBR logoApril 2021

June 12 marks the eighth annual Million Dollar Bike Ride and the second year it will be virtual because of the COVID-19 pandemic. If Team NBIA Disorders raises at least $20,000, every dollar will be matched, up to $30,000, to support a grant for BPAN research.

This is the fifth year Team NBIA is raising money to support new discoveries in BPAN, and anyone can take part — with as much or as little exertion as desired. Last year’s ride resulted in a $71,471 BPAN grant award.

The ride is organized by the University of Pennsylvania’s Penn Medicine Orphan Disease Center, and participants can cycle in their own neighborhood or even their living room. Others can support the team by spreading the word. Registration for riders is available at https://www.milliondollarbikeride.org/registration.

Choose Neurodegeneration with Brain Iron Accumulation when registering to be connected to Team NBIA Disorders. 

With the fundraising period heating up, anyone wanting to take part can register for $25 to join Team NBIA Disorders to cycle and raise donations by creating your own MDBR page with a link to send to friends and family to donate to your page. Those who don’t wish to create a fundraising page can register for $45, with the money going to Team NBIA Disorders as a donation toward the fundraising goal and then can participate in all the weekly challenges and cycling events.

Weekly challenges and classes for riders are in the works now. A virtual presentation is planned, along with a live spin class on June 12 at 11 a.m. EDT with pro  cyclist Nikki Theimann. As an added incentive, cyclists will be receiving goody bags this year.

Individuals who want to help but don’t want to register to ride can post  information about donating on social media or by sending an email to friends and family requesting their support for Team NBIA Disorders page at http://givingpages.upenn.edu/CureNBIA. Our team has made the match the last four years we’ve participated, and with your help, we will succeed again this year.

For more information, pictures and a video on Team NBIA Disorders and the  Million Dollar Bike Ride see https://www.nbiadisorders.org/mdbr-2021.



BPAN research moves ahead with grant from 2020 bike ride

BPAN researchersLeft to right: Drs. Lara Barazzuol, Mario Mauthe, Muriel Mari and Fulvio Reggiori
from University Medical Center Groningen in The Netherlands.

April 2021

A BPAN research grant that could inspire new approaches to treating the disorder was awarded in January through the University of Pennsylvania with collaboration from the NBIA Disorders Association.

The grant went to Drs. Fulvio Reggiori, Mario Mauthe, Muriel Mari and Lara Barazzuol from University Medical Center Groningen (UMCG) in The Netherlands. Their research project is titled “Deciphering the causes of mitochondrial network disruption in WDR45-defective cells and their contribution to the BPAN pathology.” It is designed to determine how gene mutations contribute to Beta-propeller Protein-Associated Neurodegeneration (BPAN), the most prevalent of the NBIA disorders.

Funds for the one-year grant were raised through the virtual Million Dollar Bike Ride (MDBR) fundraiser held in June 2020. Families raised $35,000 and $30,000 of that was matched, dollar for dollar, by Penn’s Orphan Disease Center. When combined with registration costs and additional sponsor funds, the research grant totaled $71,471.

This is the fourth time research supported by the NBIA Disorders Association qualified for Million Dollar Bike Ride grants. Our organization writes the request for proposals, and members of our Scientific & Medical Advisory Board review grant applications. The University of Pennsylvania manages the grants and sends us a copy of the final scientific report grant that recipients will provide. Selection is based on the grant proposal’s relevance, feasibility and scientific merit.

The WDR45 gene, which when mutated causes BPAN, produces a protein called WDR45 that appears to be involved in autophagy, the process in which the body’s cells clean out damaged or unnecessary components. However, the precise molecular function and contribution of this protein to this pathway remains unclear.

This research will be taking a closer look at the mitochondria, which are the small structures in cells responsible for important processes such as producing energy, regulating metabolism, inflammation and cell death. Mitochondrial dysfunction is observed in genes mutated in certain NBIA subtypes, including the PANK2 gene in PKAN, the COASY gene in CoPAN, the PLA2G6 gene in PLAN and the C19orf12 gene in MPAN, carry instructions for mitochondrial proteins.

The team’s preliminary data reveals that cells with a WDR45 deficiency have a disorganized mitochondrial network. This indicates that WDR45 is also part of other cellular processes in addition to autophagy. The main goal of the research is to characterize how WDR45 deficiency leads to mitochondrial network disorganization and unveil the consequences of this to the cell.

The research will initially be performed in model cell lines followed by experiments using stem cells, a type called induced pluripotent stem cells (iPSCs). These iPSCs come from donated BPAN patient urine cells that are reprogrammed to become iPSCs. The IPSCs can then be reprogrammed in a lot of other human cell body cells, including the key brain cells affected by BPAN.

The team will search for metabolic pathways, which are a series of connected chemical reactions in the cell, that are affected in BPAN patients due to their dysfunctional mitochondria. This knowledge could offer the possibility of developing treatments to rebalance these metabolic alterations and decrease the devastating symptoms of BPAN and, potentially, other NBIA disorders.

The project will take advantage of the expertise of the four researchers, who are strategically located at the same department of the UMCG: autophagy (Fulvio Reggiori), ß-propeller proteins (Mario Mauthe), brain organoids technology (Lara Barazzuol) and electron microscopy approaches (Muriel Mari).

This project is also benefitting from an ongoing collaboration between the awarded groups, Prof. Marina de Tijssen, a clinician at the Movement Disorders Groningen, which is the Netherlands center of expertise for NBIA diseases, and the Dutch NBIA foundation Stichting Ijzersterk.  Tijssen and the patient organization have been instrumental in getting in touch with the patient families donating the urine samples to generate the iPSCs.


NBIA Poland funds study to better understand MPAN’s causes

NBIA PolskaApril 2021

The association that represents all NBIA disorders in Poland has awarded a research grant for €59,000 ($71,571 U.S. dollars) to two researchers in a German Research Center who are investigating still-unanswered questions about the underlying causes of MPAN.

MPAN, which stands for mitochondrial membrane protein-associated neurodegeneration is caused by mutations of the C19orf12 gene.


Dr. Arcangela Iuso, researcher
from Helmholtz Zentrum Munich.

The grant to Dr. Arcangela Iuso and Dr. Ana Messias from the Helmholtz Zentrum Munich is to help fund a two-year research project on MPAN that started in September 2020. Titled “Investigating C19orf12 functions in redox metabolism,” the goal is to better understand how the mutation affects individuals and what drugs might help MPAN patients.


Dr. Ana Messias, researcher
from Helmholtz Zentrum Munich.

Preliminary studies have shown that when the gene C19orf12 is mutated, many processes in the cells are altered leading to MPAN, a progressive degenerative disease. In particular, cells from MPAN patients seem to have increased calcium compared to cells from healthy donors, and are more susceptible to oxidative stress, which occurs when the body has an excess of free radicals. This imbalance can lead to cell and tissue damage, which is part of what the researchers will study.

They also will use several molecular biology and biochemical methods to compare skin cells of MPAN patients to the cells of unaffected MPAN carriers (parents) and other healthy individuals. They want to see if there are significant differences between the cells of each group.
The researchers also will examine the proteins that are produced from the C19orf12 gene mutations. They will compare the normal protein found in healthy individuals to the mutated version that is found in individuals with MPAN.

The goal of comparing the healthy and MPAN cells and non-mutated proteins to the mutated ones is to find some differences that could be used to develop a therapeutic approach for MPAN. The researchers will then test different drugs that could reverse the cell damage in MPAN individuals. The team’s ultimate goal is to identify successful MPAN therapies.
Iuso and Messias will be collaborating and exchanging information with Drs. Marta Skowronska and Tomasz Kmiec, clinicians who see MPAN patients in Poland. Poland has the largest cohort of MPAN patients in the world, with over 45 individuals diagnosed to date.

NBIA Poland will support this project by facilitating scientific exchange between the Munich researchers and the Polish researchers and by making the MPAN patient community aware of the importance of donating biosamples for the research project.

Anyone interested in donating a biosample to the research group should contact Dr. Maciej Cwyl, President of NBIA Poland at mc@il.pw.edu.pl.



Scientific & Medical Advisory Board welcomes two new members

April 2021

Two new members recently joined the NBIA Disorders Association’s advisory group of expert researchers and physicians, while two others say farewell.


Professor Robin Ketteler
of University College London, UK.

The newest members of the association’s Scientific & Medical Advisory Board (SMAB) are Professor Robin Ketteler, a researcher-manager of the High-Content Screening Core Facility at the Laboratory for Molecular Cell Biology, University College London, and Dr. Valeria Tiranti, head of the Molecular Pathology of Mitochondrial Disorders lab at the IRCCS Foundation Neurological Institute Carlo Besta in Milan, Italy.

Ketteler has been recognized as a leader in high-content biology and CRISPR genome editing, specializing in the early steps in autophagy, the natural process in which the body's cells clean out any damaged or unnecessary cells. The Ketteler lab is developing therapeutic approaches to target the autophagy pathway in cancer and neurodegenerative disorders. These include the use of patient-derived cells and the use of stem cells for disease modelling and drug screening.


Dr. Valeria Tiranti, of IRCCS
Foundation Neurological Institute
Carlo Besta in Milan, Italy.

Tiranti’s expertise is in mitochondrial and metabolic disorders, including identification of disease genes, molecular and cellular biology, and identifying the causes of disease. She joined the NBIA field some years ago and is studying the role of mitochondria in neurodegeneration by examining cellular and animal models.

Ketteler and Tiranti replace two dedicated, distinguished SMAB members, Dr. Arnold Strauss and Dr. Suzanne Jackowski, both of whom served as expert advisers from 2016 to 2020. Strauss and Jackowski have retired from their research institutions and stepped down from the board at the end of last year. Strauss was a researcher and professor of pediatrics in cardiology at Cincinnati Children’s Hospital and the University of Cincinnati, and Jackowski was a biomedical scientist and faculty member at St. Jude Children’s Research Hospital. The NBIA Disorders Association board will greatly miss their knowledge and expertise.

For more information about our Scientific & Medical Advisory Board, please see our website:

Scientific & Medical Advisory Board



Fundraisers so far this year bring in $12,400

April 2021

- By Cynthia Craig


Levi Gartman, 8, who has PKAN and his sister
Lilah, of South Windsor, Connecticut, wear red
for PKAN fundraiser.


Organizers of the fundraiser
prepare signs to hang up
around the school.

Former classmates of eight-year-old Levi Gartman of South Windsor, Connecticut, held a fundraiser in his honor and raised $900 for PKAN research.

Levi was diagnosed with PKAN in late 2018, and the daughter of his special education teacher, who adores Levi and wanted to do something meaningful for him, came up with the fundraiser idea. Levi’s dad, Jeff, who calls his son “the happiest little guy,” said that was one of the sweetest things he had heard in a while.

For the fundraiser, students at Philip R. Smith Elementary School, including Levi’s sister, Lilah, asked everyone to wear red and bring a dollar to school in tribute to Levi. The donations poured in, one dollar at a time.

Meanwhile, our faithful Facebook birthday fundraising volunteers have been busy since January, raising over $6,500 to support our organization. Our hat is off to Diane Anlauf, Daniele Bianchi, Simone Bianco, Jennifer Bolkin Greene, Monika Burzy, Xochitl Galvan Wilson, Luna Ionita, Amber Jones, Dawnie Kennedy, Alison Lea, Connie Mignon Meschbat-Velez, Patricia Ripp, Timmy Smith, Darian Stray, Malgorzata Wista, Gloria Woolard Basista and Andrea Zulawski.

Finally for Rare Disease Day, Feb. 28, our families displayed their unique stripes to have some fun and support our organization. Because the zebra is the symbol for rare disorders, we posted ‘rare zebra sightings’ on our Facebook page. Over 30 NBIA families submitted photos of their rare, loved ones throughout February. In all, they raised $5,000 and celebrated their uniqueness. As Dr. Seuss says, “Today you are You, that is truer than true. There is no one alive who is Youer than You.”

If you are interested in organizing a fundraiser to benefit the NBIA Disorders Association, we are here to help support your efforts. You can find our toolkit online at https://www.nbiadisorders.org/images/FundraisingToolkit.pdf or contact Development Committee Chair Amber Denton at amber12783@yahoo.com for advice and support.


Bhavin Mehta has PKAN
and was spotted in Mumbai, India.


Lily Smith has PLAN
and was spotted in Fresno, California.




BPAN families gather virtually to offer each other support

December 2020

- By Amber Denton

Amber and Sydney Denton 

Amber and Sydney Denton of Houston, Texas

The fastest growing segment of our NBIA community, BPAN families, gathered virtually Nov. 17 for our first Zoom meeting hosted by NBIA Disorders Association.

With in-person gatherings restricted by the pandemic, we know that building strong relationships with families traveling the same journey is invaluable. Near or far, we are determined to support one another, and most of us have become quite familiar with Zoom.

Families of loved ones who have Beta-propeller Protein-Associated Neurodegeneration from the U.S. and Canada joined the call to catch up with friends, make new friends, ask questions and share stories during the two hour-long session. Families of young BPAN kids gained valuable insight from parents of BPAN adults. We laughed, we cried, we smiled, and we will do it again!

Our goal is to continue NBIA Zoom meetings to offer family support in 2021 and to expand to include meetings for PKAN, PLAN and MPAN in the first quarter of next year. Stay tuned for more information.



Hoffnungsbaum e.V funds MPAN project at Helmholtz Zentrum Center in Munich

October 2020

A lab in Germany investigating the disease mechanisms in Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN) received a grant of €151,540 euros ($178,741 USD) from Hoffnungsbaum e.V, the German NBIA patient organization.

This 27-month study will be led by an experienced MPAN researcher, Dr. Arcangela Iuso from the Helmholtz Zentrum München in Munich.

Iuso’s goal is to reveal the cellular function of the C19orf12 gene and the protein it produces. MPAN is caused by a mutation in this gene and understanding how it functions is important to developing potential therapies. Specifically, Iuso and her team hope to understand the protein’s role in lipid metabolism, which is the breakdown of fats within the cell to store energy.

Iuso’s team hypothesizes that the normal functioning of the C19orf12 protein is disrupted, which could lead to an abnormal accumulation of cell products, such as lipids or iron. This can be the cause of the iron accumulation in the brain, a hallmark of NBIA disorders.

Hoffnungsbaum e. V., reports that the research team will include many cooperating scientists, such as Dr. Benjamin Engel at the Helmholtz Pioneer Campus. The organization went on to say that the laboratory will use a new technology called cryo-electron tomography to produce a three-dimensional image of the cells with fine molecular detail. By directly imaging proteins in action, cryo-electron tomography provides molecular insights into cellular processes and thus into disease mechanisms. The Iuso and Engel groups will image cells from MPAN patients, according to Hoffnungsbaum e.V.

Funding for the work was made possible from numerous fundraising campaigns and individual donations to Hoffnungsbaum e. V. Once researchers are able to understand the mechanisms of the disease, they can pave the way for developing treatments for MPAN and other NBIA disorders.

Collaborating partners for the MPAN research team investigating the role of C19orf12 in cell lipid metabolism are from left: PhD student Enrica Zanuttigh of Helmholtz Zentrum München, Dr. Lucia Berti of the Institute for Diabetes Research and Metabolic Diseases of the Helmholtz Center Munich at the University of Tübingen, Dr. Benjamin Engel at the Helmholtz Pioneer Campus in Munich, project leader Dr. Arcangela Iuso, early-career scientist Dr. Tilak Kumar Gupta, and technical assistant Annett Hering from Helmholtz Zentrum Munich. Not pictured: Dr. Sophie Ayciriex from the Institute of Analytical Sciences at the University of Lyon, France.

Study sparks new approach to BPAN understanding and treatment

Hong Zhang 

Professor Hong Zhang, a researcher at the institute of Biophysics, Chinese Academy of Sciences in Beijing, China, reports findings on his BPAN research. You can also watch a video about his work presented at the recent NBIA scientific symposium that will be available soon.

October 2020

Study sparks new approach to BPAN understanding and treatment

A recently completed BPAN study supported by the NBIA Disorders Association has led to a new understanding of how a genetic flaw causes the disorder and how it could be corrected, lead researcher Dr. Hong Zhang said.

Zhang, a visiting professor at the University of Massachusetts Medical School and a researcher at the Institute of Biophysics, Chinese Academy of Sciences in Beijing, said he was excited by the findings. He and his team are now working on a treatment strategy for BPAN based on the study results, he said.

Zhang’s research received two grants of slightly over $51,000 each in 2017 and 2018 as part of the Million Dollar Bike Ride put on by the Orphan Disease Center at the University of Pennsylvania. NBIA families rode bikes to help raise those funds, which were matched by UPenn. The work has resulted in two publications from the first grant. Zhang will present overall results at the 7th International Symposium on NBIA & Related Disorders which will be virtually from September 30 – October 3, 2020.

Zhang and his team focused on identifying the cause of neuronal damage in Beta-propeller Protein-Associated Neurodegeneration (BPAN) by examining the cell-cleaning process, called autophagy. They found that the process is disrupted because of a mutation in the WDR45 gene and its related protein.

In his research, Zhang generated mouse models with a knockout, or missing Wdr45 gene in the central nervous system. The team also studied a closely related gene, WDR45b, which causes another neurological disease, intellectual disability (ID). These mice performed poorly in learning and memory tests.

Through the study, Zhang and his team made an important observation on the defective autophagy process. In normal cells, an accumulation of waste in the cell is wrapped up in a little sac called an autophagosome. The autophagosome then transports the waste through the cell until it arrives at another sac, called the lysosome. The autophagosome fuses with the lysosome, and the waste is then broken down and recycled.

When Zhang’s team further examined the nerve cells lacking the WDR45 and WDR45b proteins, they noticed that the waste materials were picked up by autophagosomes, but the autophagosomes could not engage with the lysosomes for unloading and recycling. This disruption stopped them from working normally. To solve this problem, the researchers attempted to bypass the point where the disruption occurs. They found that by inhibiting modification of another protein, namely O-GlcNAcyclation of SNAP29, they could reverse the autophagy defects in cells with the WDR45/45B mutation.

Zhang believes this finding points to a promising avenue for treatment.


BPAN research provides insights into how iron accumulates in brain

Young Seo 

Dr. Young Seo, an assistant professor of nutritional biochemistry at the University of Michigan’s School of Public Health in Ann Arbor, gives an update on her work which will be completed in August 2021.

October 2020

Ongoing BPAN research, funded by the NBIA Disorders Association, is producing new insights into iron accumulation and cell damage in individuals who have Beta-propeller protein-associated neurodegeneration.

BPAN is one of the most common NBIA disorders, which share a common characteristic of iron accumulation in the brain. Researchers are trying to understand what causes the iron to collect in BPAN and its impact on disease symptoms.

In September 2018, the NBIA Disorders Association awarded its first-ever early career grant for $150,000 to Dr. Young-Ah Seo, an assistant professor of nutritional biochemistry at the University of Michigan’s School of Public Health in Ann Arbor. The two-year grant was to end in August 2020 but will be extended 12 months because of a research pause during the COVID-19 pandemic.

Seo is investigating how a mutation in the WDR45 gene in BPAN individuals leads to iron accumulation and cellular damage. Her team was able to successfully generate a cell model of BPAN in which the WDR45 gene is deleted. This model showed significantly elevated iron levels, which suggests that the model mimics the condition seen in patients with BPAN.

Using this cell line, the team saw that the loss of WDR45 caused significant changes in the cellular pathways that regulate iron, which may underlie the reason iron accumulates in the brain of BPAN individuals. The team also found that the loss of WDR45 produces toxic reactive oxygen species, which are unstable molecules that can easily react and cause cell damage. This could contribute to the neurodegeneration seen in BPAN patients.

Taken together, the findings to date suggest that alterations in specific iron pathways increase total iron levels, promoting oxidative stress and cell damage in the BPAN cell model. Seo’s team is searching for molecular targets that can reduce iron levels in the cell model. Once the project is complete, it could point to potential therapies for BPAN.


BPAN study examines how mutated gene affects individuals

October 2020

A research team in the Netherlands is making progress in its study of how mutations in the WDR45 gene affect beta-propeller protein-associated neurodegeneration (BPAN).


Dr. Mario Mauthe from the University of Groningen, Netherlands, received a $45,000 grant from the NBIA Disorders Association and this update is the results from that work.

The team is being led by Dr. Mario Mauthe of the University of Groningen, who in 2018 received a $45,000 grant from the NBIA Disorders Association and is updating us on the results from that work.

BPAN is one of the most common NBIA disorders, which share a common characteristic of iron accumulation in the brain. Researchers are trying to understand what causes the iron to collect in BPAN and its impact on disease symptoms.

The researchers first investigated whether a WDR45 mutation caused disruption in a cellular process known as autophagy, in which cells recycle damaged materials and get rid of waste. They wondered if that could explain the iron accumulation observed in the brains of BPAN patients.

The team observed that the absence of the WDR45 gene does not disrupt the natural process of autophagy but that cells carrying the mutation have defects in the mitochondria, which are the energy-producing compartments within a cell. Because other NBIA patients have mitochondrial defects, it could be common to multiple NBIA diseases.

Mauthe’s team is investigating whether or not the defective gene causes issues with autophagy specifically targeting mitochondria. More research is needed to sustain their hypothesis and to understand why this defect occurs and whether treating it would be a valuable avenue for future therapies.


Research identifies several possible drug candidates for treating BPAN


Professor Robin Ketteler of University College London research update. Funds for the research grant were raised at the 2018 Million Dollar Bike Ride.

October 2020

Professor Robin Ketteler and his team at University College London have completed drug screening for potential BPAN therapies and identified several candidates that will advance to the next level of testing.

Ketteler’s team received a 2019 grant from the NBIA Disorders Association and recently reported the successful results. The BPAN drug-candidates can restore autophagy in BPAN cells, the natural process of cleaning up toxic damage in cells that is impaired in BPAN patients.

“Our results are a great starting point for further drug development,” says Ketteler. “These chemicals have characteristics of drugs, and they work in our neuronal cell model.”

The next steps are to ensure that these drug-like molecules also work in the more complex environment of the brain and can reach the brain regions that most need help.

To that end, the team plans to develop tissue models of BPAN using three-dimensional cell models.

Ketteler’s grant was made possible from funds raised by BPAN families for the 2018 Million Dollar Bike Ride held by the Orphan Disease Center at the University of Pennsylvania. Our organization writes the request for proposals and members of our Scientific & Medical Advisory Board review the applications. The University of Pennsylvania manages the grants and sends us copies of the scientific reports that are generated.

This work was done in collaboration with Professor Manju Kurian and Dr. Apostolos Papandreou, both from University College London. They had received a grant to study BPAN from our organization in 2014. (See article at https://www.nbiadisorders.org/images/newsletters/2018-apr-may-news.pdf, pg. 6).

Ketteler’s team built on the 2014 work, which produced a laboratory model of BPAN, using skin cells from BPAN patients and reprogramming those cells into neurons. Those cells were examined using state-of-the-art techniques to identify differences from cells in healthy people. The researchers learned that genes and proteins involved in iron metabolism are present in the patients’ cells at abnormal levels in comparison to healthy cells. This is in line with the disease’s characteristic buildup of iron in the brain. This finding encouraged the team to look more closely at the potential causes for such an increase in iron.

Ketteler is an expert in early stage drug discovery. “These findings are very exciting,” he said. “They present an opportunity to use our drug screening technologies to identify small molecule chemical compounds that might restore autophagy in these cells.”

Using innovative screening technologies involving sound to propel compounds onto the cells, Ketteler screened thousands of small molecule compounds for ones that might enhance autophagy in BPAN neurons. Interestingly, some of the compounds are part of a collection of FDA-approved drugs already being used for other diseases.

Ketteler is seeking additional funding to continue this research.


Team NBIA Disorders reaches $30,000 goal for MDBR

June 2020

Team NBIA did it again! For the fourth consecutive year, the NBIA Disorders Association successfully met the goal set by the Million Dollar Bike Ride and will have $30,000 matched, dollar for dollar, by the University of Pennsylvania’s Orphan Disease Center.

The team’s efforts will result in a $60,000 grant for BPAN research to be awarded later this year. BPAN, which stands for Beta-propeller protein-associated neurodegeneration, has emerged as the most common NBIA disorder. The Million Dollar Bike Ride has been a big source of support for BPAN research, a priority of the NBIA Disorders Association, bringing in $130,000 in matching money alone from UPenn over the past three years. With this match, the BPAN grants will exceed $320,000.

Despite a global pandemic, the 7th Annual Million Dollar Bike Ride carried on. Virtually, of course. Originally set to take place in Philadelphia on June 13, this year’s ride was held in communities around the world to help rare disorders while maintaining social distancing amid COVID-19.

Florio family 
Steve and Kristi Florio from Boalsburg, PA
rode their bikes at Penn State University
as part of the virtual MDBR.
Their daughter Lia has BPAN and enjoyed
riding along with her father.

In all, 712 cyclists from 39 states, Germany, Canada and Australia pledged to ride 20,567 miles for a variety of rare disorders. Virtual riders could participate with a bike ride in their neighborhoods or on stationary bikes raising funds until June 30.

Our team had 26 cyclists and 10 families that created fundraising pages in addition to our main Team NBIA Disorders page. A shout out to Roselle and Jeff Guzman of Alexandria, Virginia, who jumped in and raised $10,581 in less than two weeks! Their daughter, Salia-Rose, was recently diagnosed with BPAN.

Our sister organization, Hoffnungsbaum e.V., led by Markus Nielbock, also created a fundraising page so that BPAN families in Germany could participate; they raised $2,500

For six weeks starting in May, MDBR organizers held challenges each week to keep interest high and encourage participation. The Ftikas family of Cranbury, N.J., whose daughter Lexi Fae has BPAN, won week three, which was a fundraising challenge, by raising $1,940, the most funds raised from any team that week. On June 13 there was a thank-you presentation for all MDBR teams followed by a virtual spin class for registered riders where many did their pledged miles. Team NBIA Disorders had six cyclists participating in the class, while others took to their neighborhoods to ride that day.

Matt and Josie Biking 
Matt Ritzman and his daughter Josie who has PLAN
participate in the virtual 2020 Million Dollar Bike Ride
and raise $1550 for BPAN research. 

Avid cyclist and NBIA board Chair Matt Ritzman of Oakland, California, said he had always wanted to take part in the ride and was thrilled to do so this year with his wife, Julie, and daughter, Josie, who has NBIA.

“I planned our ride,” he said recently. “There’s a 27-mile loop near my house that’s absolutely beautiful. It’s not easy; there are lots of hills and I was carrying Josie (on a tandem bike). But she’s a fun passenger to have aboard. She loves the wind blowing in her face, and she talks a lot when we’re out. I think it’s one of her favorite activities.”

The amount raised each year “is truly remarkable considering how rare this disorder is,” Ritzman said. “I think it can be attributed to how much we support each other. My daughter has PLAN, not BPAN, so she won’t be directly impacted by the research, but I feel just as much joy when we make progress with any of these disorders.”

2020 MDBR Video

2019 Million Dollar Bike Ride supporting BPAN stem cell project

June 2020

Thanks to money raised in last year’s Million Dollar Bike Ride, the NBIA Disorders Association is supporting a stem cell research project in Australia that will examine BPAN’s effects on the brain and drugs that could help treat the disorder.

Dr. Paul Lockhart of Murdoch Children’s Research Institute (MCRI) in Melbourne is leading the project and received a grant in February for $60,561 from the bike ride’s sponsoring organization, the University of Pennsylvania. Of that total, the NBIA community raised $30,561 and won the maximum match of $30,000 from the school’s Orphan Disease Center to study Beta-propeller Protein-Associated Neurodegeneration (BPAN).

Our organization was deeply involved in the grant-making process. We wrote the request for proposals, and members of our Scientific & Medical Advisory Board reviewed the applications and made recommendations. The University of Pennsylvania will manage the grant and send us a copy of the final scientific report that Lockhart’s team submits.

The project is titled “Development of novel human stem cell models of BPAN for disease modeling and drug screening,” and is being conducted by the Bruce Lefroy Centre, a genetics research unit at MCRI, where Lockhart is co-director. His co-investigators are Dr. Martin Delatycki and Dr. Jay Shukla.

Lockhart Australian families 

BPAN families in Australia meet with researchers
at the Murdoch Children’s Institute in Melbourne. 

The team has identified 11 individuals in Australia who have BPAN, ranging in age from toddlers to a 36-year-old. Most of them have agreed to donate their skin cells for the study. MCRI researchers will reprogram those cells using cutting-edge stem cell technologies to generate the kind of nerve cells affected by BPAN. This ‘brain in a dish’ model allows direct testing of how BPAN affects brain function and offers a way to rapidly screen large numbers of drugs for potential treatments.

The team will create neural networks that mimics the way nerve cells communicate with each other in the human brain. They hope these models will help them identify what causes specific neurons in the brain of BPAN-affected individuals to degenerate much earlier than in individuals without the disorder. In addition, the team will use the models to test drug compounds that might be effective in treating BPAN. Such studies are required before a potential treatment can move to a clinical trial in patients.

This research is part of a larger project launched in December 2019 with an anonymous $200,000 donation in honor of five-year old Angus Hunter, who has BPAN. The Hunter family lives in Melbourne and is active in raising awareness and funds for BPAN research, as well as providing support to BPAN families.

NBIA Disorders Association awards $45,000 for FAHN research in March

June 2020

The NBIA Disorders Association has awarded a $45,000 research grant to a team of German scientists studying stem cells in patients with the NBIA disorder known as FAHN.

Led by Dr. Andreas Hermann, along with Drs. Moritz Frech and Jiankai Luo of the University Medical Center Rostock, the team will create a model of FAHN, or Fatty Acid Hydroxylase-associated Neurodegeneration, in the lab, along with stem cells to better understand how the disease works. With that understanding, the researchers can advance to testing potential therapies to see whether they can reverse FAHN’s effects.

The team plans to create a supply of patient-specific induced pluripotent stem cells, which have the capacity to become any cell in the body. They can also self-renew, meaning that they divide and produce more stem cells.

To develop these stem cells in the lab, cells will be taken from the connective tissue of FAHN patients. Researchers will then use a gene-editing technology, CRISPR/Cas9, to add copies of certain genes to the cells, endowing them with a stem cell’s special characteristics. They can develop into central nervous system cells that may be affected by FAHN.

The researchers will team up with Dr. Sunita Venkateswaran, an assistant professor and pediatric neurologist at the University of Ottawa. She is well established in the field of NBIA and will collaborate with the team on the research.

The project is called "In vitro disease modeling of Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN): Patient specific induced pluripotent stem cells and their neuronal derivatives as human models of FAHN.” It is being funded from March 1, 2020, through Feb. 28, 2021.


OHSU reports on plans to launch CoA-Z trial with help from grant

OHSU logoNovember 2019

NBIA researchers Drs. Susan Hayflick and Penny Hogarth recently announced that, thanks to added help from a federal grant, they will soon launch a clinical trial to test a compound, CoA-Z, in individuals with PKAN, a common form of NBIA.

The grant is from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, part of the National Institutes of Health.

The CoA-Z compound will be tested in the U.S. and Canada to see if it corrects a metabolic process involved in producing coenzyme A in individuals with PKAN.

To prepare for the trial, the researchers recently did a study in a small number of PKAN adults and children who received CoA-Z under supervision at the Oregon Health & Sciences University, where the Hayflick and Hogarth Team is located. The information gained from this study was used to refine the dosing plan for the trial and help determine when blood samples should be collected.

The preliminary testing confirmed that CoA-Z was safe for PKAN individuals to take over the short period of the study.

In addition to the NIH grant that will fund the clinical trial over a period of several years, $2 million in donations has been raised from a variety of sources over the past two years to support the manufacturing and formulation of CoA-Z, database development and other costs not covered by the NIH grant. NBIA families held many fundraisers, with proceeds going to the nonprofit Spoonbill Foundation founded by Hayflick and Hogarth. Funds also came from Stichting Lepelaar, a nonprofit Drs. Ody Sibon and Hans Hektor set up in the Netherlands, the Dutch Foundation for Rare Diseases, and $50,000 from the NBIA Disorders Association.

The OHSU team led by Suh Young Jeong, PhD, in partnership with Sibon's group, recently published an article in the journal EMBO Molecular Medicine on CoA-Z, titled "4'-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN." The article was based on a mouse model of PKAN. The researchers say this mouse is important because it is the first to show abnormal iron accumulation in the brain, as well as other PKAN changes.

These mice did not have any dystonia, but they had biochemical changes of PKAN in the same brain region as in people with PKAN. According to the article, after taking 4'-phosphopantetheine by mouth for two weeks, all of the PKAN biochemical changes in mouse brain improved.

Researchers also tested skin cells from people with PKAN, and the same biochemical changes were found. When the cells were bathed in 4'-phosphopantetheine, the changes resolved. The mouse experiments showed that 4'-phosphopantetheine is not degraded in the gastrointestinal tract and that it can cross the blood-brain barrier.

Sibon's group published a separate paper in the same journal issue titled, "CoA-dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases," that reveals important insights into the biochemical changes in PKAN and related disorders. The researchers believe these two publications provide a solid foundation for launching studies of CoA-Z in people.

Information for this article was taken from http://nbiacure.org/coaz-clinical-trial/ where you can go for more information and updates on the clinical trial.



Clinical trial of Retrophin drug fails; Shows no benefit for PKAN patients

August 2019

A much-anticipated drug therapy has failed to show any benefit for individuals affected with PKAN, or Pantothenate Kinase-Associated Neurodegeneration, one of the most common forms of NBIA.

The drug’s maker, Retrophin Inc., announced the disappointing results Aug. 22 for its Phase 3 Fosmetpantotenate Replacement Therapy, or FORT, study.

Seventy-eight PKAN individuals had completed the 24-week randomized, double-blind study, meaning that neither the patients nor the doctors knew who was randomly selected to get the drug or the placebo. At the end of the study, 76 patients decided to participate in the open-label program in which all received the drug.

Although the drug, Fosmetpantotenate, was observed to be generally safe and well-tolerated, the study found that it did not meet its primary or secondary endpoints, or outcome measures.

First, the study found no differences between those who received the drug and those who got the placebo. That determination was based on the extent to which individuals improved over the 24-week trial, based on a scale that measures activities of daily living, such as walking, eating and dressing. Those measures were specifically adapted for PKAN individuals using Part II of the comprehensive and widely referenced Unified Parkinson’s Disease Rating Scale.

Second, the study found no measurable change on the same scale’s Part III score, which evaluates motor function, including slowness, stiffness and balance.

No data suggested that a longer course of treatment would change the outcomes, nor were any differences seen between classic and later-onset PKAN individuals taking part in the trial.

“We are very disappointed in the topline results from the FORT Study, particularly because we have seen the devastating impact of PKAN on patients and their families, and a significant unmet need remains with no approved treatment option,” said Retrophin CEO Eric Dube, Ph.D. "We would like to thank the patients, their caregivers, study investigators and our employees, whose dedication made this study possible.”

The study gathered a significant amount of data, which is still being analyzed. Retrophin plans to present its findings at scientific meetings in the fall. It also will publish the findings in a peer-reviewed journal. Company officials said they hope the data will help inform future clinical studies for treating PKAN.



Deferiprone trial results produce positive findings for some with PKAN

August 2019

The long-awaited results from the first international clinical trial for NBIA — testing deferiprone in individuals with PKAN — are in.

They show that the iron-chelating drug slowed the progression of the disorder in older patients with a later-onset, or atypical, form of PKAN, but did not have a similar benefit for younger patients with classic PKAN, which starts in early childhood.

In addition to those findings, the study showed that the drug successfully reduced the amount of accumulated iron in the brain for PKAN individuals, regardless of onset age.

PKAN, or Pantothenate Kinase-Associated Neurodegeneration, and all other NBIA disorders share iron accumulation in the globus pallidus structure of the brain. It remains unclear, however, whether excess iron causes NBIA or is brought on by some other problem.

The results of the trial, which was funded by a European Union grant titled Treat Iron-Related Childhood-Onset Neurodegeneration, or TIRCON, were presented at the Tenth International NBIA Family Conference held May 30 to June 2 in Charleston, S.C. The findings were then published in the July issue of the medical journal, Lancet Neurology.

The lead investigator of the trial in the United States, Dr. Elliott Vichinsky of the University of California, San Francisco Benioff Children’s Hospital in Oakland, discussed the results at the conference. He said that older and younger PKAN individuals showed improvement with deferiprone in dystonia of the lower face and lower legs, as well as in cognitive functioning, especially memory. But the benefit in the younger children, who tend to have a faster-moving, more severe form of PKAN, “wasn’t statistically significant,” he said.

The 18-month trial, which ran from 2012 to 2015, involved 88 patients from the United States, Germany, Italy and England. The trial met the gold standard for research. It was randomized, with some patients getting deferiprone orally and others getting a placebo. Afterward, the trial was extended another 18 months, and the drug was made available to everyone who took part in the trial.

“The drug was well-tolerated, and the safety profile was very good,” Vichinsky told families at the conference.

But because the study did not meet a key goal — showing a statistically important improvement from deferiprone in all age groups — the U.S. Food and Drug Administration hasn’t yet approved it for PKAN. Consequently, Vichinsky encouraged interested families to contact the FDA to advocate for its approval.

To read the full article:

Published Article


To see his presentation, go to the YouTube channel for the NBIA Disorders Association conference here:

Watch Video



Two new grants awarded to BPAN researchers in January

April 2019

Two new BPAN grants were awarded in January from the University of Pennsylvania, with crucial input from the NBIA Disorders Association.

In both cases, the grants will enable researchers to build on their previous studies of BPAN, or Beta-Propeller Associated Neurodegeneration, which is fast becoming one of the most common forms of NBIA.

The money for the grants comes from last year’s Million Dollar Bike Ride held in May 2018 by the Orphan Disease Center at the University of Pennsylvania. For the second year in a row, BPAN family supporters rode and managed to qualify for a matching grant of $50,000 from UPenn. Because the riders raised slightly more than the required match, one-year grants of $51,020 each were awarded for the two new BPAN studies.

Our organization writes the request for proposals, and members of our Scientific & Medical Advisory Board review grant applications. The University of Pennsylvania manages the grants, and sends us copies of the scientific reports that grant recipients provide.

Hong Zhang
Dr. Hong Zhang of the Chinese Academy of Sciences in Beijing, has received a $51,020 grant for BPAN research. He is currently a visiting professor at the University of Massachusetts Medical School.

One new grant will go to Dr. Hong Zhang, who received a grant from the 2017 Million Dollar Bike Ride. Zhang will be able to continue his studies into the functions of the mutated WDR45 gene, which causes BPAN. Zhang, a visiting professor at the University of Massachusetts Medical School and a researcher at the Institute of Biophysics, Chinese Academy of Sciences, in Beijing titled his newest project, “Mechanistic study of WDR45/45B and their binding partner ATG2 in the autophagy pathway of neural cells.”

What that means is Zhang will be studying the role of the protein WDR45 that’s made by the WDR45 gene that causes BPAN. He also will study WDR45B, the protein for the WDR45B gene that causes another neurodevelopmental syndrome characterized by intellectual disability, spastic quadriplegia, epilepsy and cerebral hypoplasia. Specifically, he’ll be looking at the impact these proteins have in the neural pathway for autophagy, the natural, multi-step process by which the body recycles or cleans out certain toxic materials to maintain proper functioning and stability.

Two PKAN grants awarded this year in collaboration with sister groups

April, 2019

Lauriel Earley
Dr. Lauriel Earley from the University of North Carolina - Chapel Hill, will work on a PANK2 gene therapy for the treatment of PKAN in her newly awarded grant.

Two new grants to study PKAN were awarded early this year by the NBIA Disorders Association in collaboration with two of our European sister organizations, AISNAF in Italy and Hoffungsbaum e. V. in Germany.

These grants mark the first time all three NBIA groups have teamed up to fund research projects.

The organizations received 12 proposals, with eight focusing on PKAN, three on BPAN and one on MPAN. All were evaluated by an International Scientific Advisory Board made up of scientists and clinicians with expertise in the field of rare, neurodegenerative diseases, including NBIA. In a second step, the projects deemed worthy of funding were shared with a Lay Review Board consisting of parents and patient representatives. The lay group had the final say on which projects would be funded.

The members selected two PKAN studies. No proposals to study BPAN or MPAN met the funding standards, so a new call for proposals for these two disorders went out in March.

Three clinical trials are underway; two others are being planned

April, 2019

Possible treatments for two NBIA disorders are being tested in clinical trials that are either in progress or being planned for the near future.

The best known of these is the Retrophin Inc. trial for Pantothenate Kinase-Associated Neurodegeneration, or PKAN, now underway at 20 sites in the U.S., Canada and Europe. It is the first trial of a medication that targets the underlying causes of this disorder.

Fort Study logoRetrophin, based in San Diego, finished enrolling patients in December 2018, with approximately 82 PKAN patients between the ages of 6 and 65 years. The Fosmetpantotenate Replacement Therapy, or FORT study, is being conducted under a Special Protocol Assessment agreement. That means the U.S. Food and Drug Administration believes that the trial’s design is adequate to support the filing of a New Drug Application, assuming the results are favorable.

Collaborations will lead to 5 NBIA grant awards in early 2019

September 2018

The NBIA Disorders Association is collaborating on five grants that will be awarded early next year, three of which are dedicated to studying BPAN, the fastest-growing NBIA diagnosis. The other two disorders eligible for grants are MPAN and PKAN.

Researchers have been notified to submit applications for the grants this fall, and representatives of our organization will be involved in the award-selection process.

Our first call for applications is for two grants of $51,020 each to study BPAN, or Beta-propeller Protein-Associated Neurodegeneration. Those applications involve a two-step process: submitting a letter of intent, undergoing a review and being asked to submit a full application, due Oct. 15.

NBIA organization awards two grants for BPAN, including the first for an early-career researcher

September 2018

Seeking to attract more scientists to study NBIA, the NBIA Disorders Association this spring awarded it’s first-ever early-career grant to a researcher. That scientist will receive a total of $150,000 spread over two years to study BPAN.

 In addition, the organization awarded a one-year $45,000 grant to another BPAN researcher.

The recipient of the early career award is Dr. Young-Ah Seo, an assistant professor of nutritional biochemistry in the department of nutritional sciences at the University of Michigan School of Public Health in Ann Arbor. The NBIA Disorders Association board created this grant category to support highly promising early-career investigators as they transition from training to independence. The board hopes recipients will maintain an interested in the disorders and contribute substantially to NBIA discoveries throughout their careers.

Deadline looming to seek BPAN research grants

May 2018

Hurry! June 15 is the deadline to apply for NBIA Disorders Association research grants to study Beta-propeller Protein-Associated Neurodegeneration (BPAN).

The association plans to award two grants for BPAN research with money raised exclusively by BPAN families.

One is a $45,000 grant that is open to all scientists. The organization is interested in projects that have the potential to generate essential resources for the scientific community, advance knowledge about NBIA disease processes and produce preliminary data so that additional national and international funding can carry the work forward.

The other grant is for an early-career faculty investigator grant — our first such offering. Applicants must be within five years of their first faculty appointment, or the equivalent. The selected recipient would get up to $75,000 each year for two years, with an option for a third year, depending on progress.

This grant is intended to support highly promising but relatively new researchers as they transition from training to independence. The goal is to engage an investigator who will contribute substantially to this field for the duration of his or her career.

Scientists report on progress of current NBIA research projects

May 2018

One of the key activities of the NBIA Disorders Association is awarding research grants, most of it with money raised by our hardworking families.

The board of trustees receives invaluable help from our Scientific and Medical Advisory Board, which helps set research goals, evaluates proposals and monitors projects after the board funds them. In evaluating proposals, the advisory board puts greatest priority on new paths of study that could lead to a treatment or a cure.

Throughout the process, the advisory board follows high ethical standards. For example, researcher-advisers who submit a proposal or have a conflict of interest must state their conflict and recuse themselves from decision-making. After the board of trustees approve a grant, it holds grantees accountable for meeting deadlines, delivering the promised work and providing updates to share with families. These recipients must submit regular financial and scientific reports to our SMAB; payments are made in stages after those reports are submitted.

Since 2002, the trustees have funded 33 research grants totaling $1,290,914. The board also has funded research contracts totaling $357,408, Hayflick lab funding at $250,000 in 2009 (when it was in jeopardy of closing) and part of a clinical consensus treatment guide at $16,117. All told, that’s nearly $2 million for research.

Here are updates on recent grants the board awarded:

Nearly $150,000 in grants awarded for BPAN research

May 2018

Thanks to the fundraising efforts of BPAN families, research into this NBIA disorder is taking a leap forward this year with the award of three grants totaling $146,014.

Two of the grants went to Dr. Penelope Hogarth of the Oregon Health & Science University in Portland for a natural history study of Beta-propeller Protein-Associated Neurodegeneration, or BPAN. Our organization awarded her $45,000, and another $50,507 came from the University of Pennsylvania as a matching grant in collaboration with our organization.

Although an increasing number of BPAN individuals are being diagnosed, there is much to learn about how the disease progresses.

Hayflick, Hogarth and Sibon team moving ahead on one of two drugs for PKAN

November, 2017

Drs. Susan Hayflick, Penny Hogarth and Ody Sibon told PKAN families recently that they are working with two companies to create a PKAN drug to ensure sufficient amounts for a clinical trial.

Speaking with PKAN families via a Facebook live stream video Nov. 6, the researchers said they are hopeful the compound that they are calling CoA-Z will correct a metabolic process involved in producing coenzyme A, called CoA. CoA is involved in metabolism and is thought to be low in individuals with Pantothenate Kinase-Associated Neurodegeneration, the most common form of NBIA. In the PKAN mouse, CoA-Z does everything Hayflick, Hogarth and Sibon would want to see before moving their studies into a human clinical trial.

Board awards its first grants for FAHN research

August, 2017

The NBIA Disorders Association board in June awarded its first grants for two projects to research Fatty Acid Hydroxylase-associated Neurodegeneration, or FAHN, one of the NBIA disorders.

The grants were made possible by the fundraising efforts of the Engblom family from East Islip, N.Y. Parents Trevor and Gina, along with their son Kyle who has FAHN, worked tirelessly for over a year to raise the money.

First patients in Retrophin trial to receive drug targeting PKAN

October, 2017

In July, the first patients taking part in an international clinical trial on a possible treatment for PKAN, the most common NBIA disorder, received Retrophin Inc.’s drug, fosmetpantotenate, also known as RE-024.

This long-awaited launch of Phase 3 of the trial, which Retrophin delayed until manufacturing issues were resolved, will assess the safety and effectiveness of RE-024. If the San Diego-based company is successful, RE-024 would be the first medication targeting the underlying cause of PKAN, or Pantothenate Kinase-Associated Neurodegeneration. It could change the course of the disease.

Hayflick team announces work on 2 promising compounds for PKAN

August, 2017

Calling it “a big deal,” Dr. Susan Hayflick, who has been studying the NBIA disorders since the early 1990s, announced at the June family conference that her lab is working on two potential treatments for PKAN, the most common form of NBIA.

One is a previously approved U.S. Food and Drug Administration drug, which Hayflick didn’t name but said her lab had just begun testing in PKAN-impaired mice. It’s “pretty safe and inexpensive and available worldwide, but we have to see if it helps the mice” said Hayflick, a physician and researcher at the Oregon Health & Science University in Portland.

Million Dollar Bike Ride nets $101,014 for BPAN research

August, 2017

A cycling team representing the NBIA Disorders Association raised over $50,000 for BPAN research and will have the full amount matched for taking part in the University of Pennsylvania Health System’s fourth annual Million Dollar Bike Ride for rare disorders.

Penn Medicine is now requesting letters of interest by Sept. 18, 2017, from the international scientific community for grants to study the diseases designated by the riders at the May bike ride in Philadelphia. Full applications are accepted by invitation only after letters of interest are reviewed.

Retrophin logo

Retrophin recruiting for PKAN drug study

May 4, 2017

The NBIA Disorders Association posts the following announcement for informational purposes only. While the organization supports and encourages the discovery of treatments for NBIA individuals and willingly posts information concerning research studies (such as questionnaires and clinical trial enrollment), we do not endorse specific studies. Nor do we advise NBIA individuals or their families to take part in a particular study. Rather, we believe that those decisions are best made by affected individuals and/or their families, in collaboration with their doctors.

Retrophin Inc. has begun to recruit patients for its planned clinical trial for PKAN patients.

The company plans to test a drug, fosmetpantotenate, the new name for RE-O24, to see if it can help patients with the most common NBIA disorder, PKAN. Retrophin had hoped to begin the study late last year, but a manufacturing problem caused a delay until now.

Retrophin logo

Retrophin announces delay in starting RE-024 trial


The NBIA Disorders Association posts the following announcement for informational purposes only. While the organization supports and encourages the discovery of treatments for NBIA individuals and willingly posts information concerning research studies (such as questionnaires and clinical trial enrollment), we do not endorse specific studies. Nor do we advise NBIA individuals or their families to take part in a particular study. Rather, we believe that those decisions are best made by affected individuals and/or their families, in collaboration with their doctors.

Retrophin recently informed the NBIA Disorders Association that the phase three trial of its PKAN drug, RE-024, is being delayed because of a manufacturing problem.

The trial’s placebo - often called a sugar pill because some patients will get it rather than the drug -“did not meet the stringent quality standards necessary for a clinical trial,” said Tricia Sterling, executive director of patient care at Retrophin.

The company had planned to start dosing patients by end of 2016 but now must correct the manufacturing issue so that the trial can proceed safely and generate high-quality clinical data, she said.

Delays in starting clinical trials are common for a variety of reasons.

European grant will help researchers test drugs and supplements for MPAN

December, 2016

With a grant from our sister organizations in Switzerland and the Netherlands, researchers in Germany are testing potential treatments for MPAN, a form of NBIA.

The scientists plan to use the grant of 50,000 euros from NBIA Suisse and Stichting Ijzjersterkthe to test about 200 drugs and nutritional supplements that might help MPAN patients. They will screen those compounds in a fruit fly model of MPAN.

Italian lab receives grant, drug access in quest to uncover PKAN treatments


- By Francesca Sofia, PhD*

A lab in Italy working on the role of coenzyme A in NBIA received a grant of 16,500 euros in June from the Italian Association for Neurodegeneration with Brain Iron Accumulation (AISNAF).

The funding, which could be renewed at the same amount, will enable the lab to continue its work on CoA for six months while waiting for larger grants to come in.

Next round of NBIA research grants to focus on BPAN and FAHN


Families who raised money for studies on two NBIA disorders, BPAN and FAHN, will soon see a focus on the diseases when the NBIA Disorders Association solicits a new round of study proposals.

Within the next few months, the association expects to specifically ask for grant applications that address research priorities for BPAN and FAHN.

The association’s Scientific & Medical Advisory Board is in the process of setting research priorities for Beta-propeller Protein-Associated Neurodegeneration (BPAN) and Fatty-Acid Hydroxylase-associated Neurodegeneration (FAHN). Those priorities will be used to guide research proposal requests, and the grants will be awarded as soon as possible in 2017.

Identifying NBIA research priorities key topic at meeting of families, researchers and board

AUGUST, 2016

As the NBIA community grows with more disorders under its umbrella, the organization’s research agenda also is evolving as some families seek more attention—and dollars—for their loved one’s disorder.

That was among the topics discussed by families, the NBIA Disorders Association board and its Scientific & Medical Advisory Board at a meeting on research priorities. It was held during the association’s 20th anniversary celebration in the Cincinnati area.

Two more researchers join association’s Scientific & Medical Advisory Board

JULY, 2016

A group of researchers, physicians and technology executives who provide scientific and medical advice to the NBIA Disorders Association has added two new members, bringing the total to seven.

Researchers in Portland host first-ever meeting with BPAN families

JUNE, 2016
By Matt Dyer and Meg Talley Dyer

For the first time, researchers at the Oregon Health and Science University hosted a meeting in Portland for BPAN families so they could share information, take biological samples and introduce families whose loved ones share the same disorder.

NBIA Suisse joins NBIA Alliance

January 2016

The NBIA Alliance, an informal umbrella organization for the lay advocacy groups, recently welcomed its newest member, NBIA Suisse from Switzerland. Set up in 2012, the alliance now has eight member organizations. In addition to the Swiss and U.S. groups, they are in Canada, France, Germany, Italy, the Netherlands and Spain.

The newest alliance member, NBIA Suisse, came on board in October, 2015. Fatemeh Mollet is the founder and has three nieces with a form of NBIA known as Mitochondrial-membrane Protein-Associated Neurodegeneration, or MPAN.


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