INAD Gene Therapy

INAD Gene Therapy in the UK Receives EU and US Orphan Drug Designation


December 2023

Bloomsbury Genetic Therapies Limited, based in London, has received orphan drug designations (ODD) from both the European Commission (EC) and the US Food and Drug Administration (FDA) for BGT-INAD, an investigational AAV9 gene therapy to treat Infantile Neuroaxonal Dystrophy (INAD). This therapy offers a potentially curative option for INAD patients through a single cerebrospinal fluid (CSF) injection.

In the US, an ODD designation, which is for diseases with fewer than 200,000 affected US individuals, opens doors for grant opportunities, FDA user-fee benefits, tax advantages, and a seven-year market exclusivity upon regulatory approval. If approved for marketing, the EU provides a similar designation with ten years of market exclusivity.

Bloomsbury also secured a rare pediatric disease designation in the US. They also received a Type B Pre-Investigational New Drug Application (IND) meeting with the FDA, obtaining detailed advice on their plans for BGT-INAD's clinical development.

According to Adrien Lemoine, Co-Founder & CEO of Bloomsbury, the Pre-IND meeting's paramount benefit lies in receiving early insights from the FDA and understanding their expectations for the drug development program. Lemoine expressed satisfaction with the meeting, citing active engagement and constructive guidance from the FDA.

Collaborating with the UK's Medicines and Healthcare Products Regulatory Agency (MHRA) and following June feedback, Bloomsbury is progressing through preclinical studies for BGT-INAD. These studies have already shown compelling preclinical efficacy data in partnership with University College London (UCL) in preparation for a Phase 1/2/3 clinical trial in Europe and the US.

Anticipating completion of efficacy studies early next year, the next steps involve rodent biodistribution/toxicology studies and obtaining a vector adhering to strict regulatory standards and Good Manufacturing Practices before initiating a clinical trial.

Lemoine stated that Bloomsbury anticipates filing an IND to start a clinical trial no earlier than 2025, with the trial slated for 2025/2026, considering the necessary time for these comprehensive activities and contingent upon their funding success.


Board Welcomes New President

Board Welcomes New President

December 2023

The Board of Trustees is pleased to welcome Amber Denton as the President of the NBIA Disorders Association. Denton, a valued member of the Board since 2019, officially assumed her role on October 1, 2023, succeeding the esteemed outgoing president and NBIA Disorders Association founder, Patricia Wood.

 Amber Denton

 Amber Denton, the new president of the NBIA Disorders Association.

Denton brings a wealth of experience, energy and empathy to our organization. Denton’s commitment to our cause is deeply rooted in her personal journey. Following her daughter Sydney's diagnosis with BPAN in 2017, Denton immediately dedicated herself to advocacy and fundraising. Through her initiative, Sydney’s Song, a Houston-based NBIA advocacy group, she and her community rallied, helping to raise over $100,000 for NBIA Disorders Association. Denton has also played an integral part in uniting NBIA-affected families in Houston, collectively known as the Houston BPAN Tribe, fostering local fundraising and advocacy efforts showcased at the recent 2023 Family Conference.

Her involvement with NBIA Disorders Association began in 2017, initially contributing to the Development Committee and later assuming a Board position as Development Committee chair in 2019. Displaying exceptional leadership, Denton served as Vice President of the Board of Trustees from April 2022 to September 2023. Her active participation as a presenter at NBIA Disorders Association Family Conferences, focusing on fundraising and raising NBIA awareness, and most recently, as Co-Chair of our 2023 Conference, underscores her dedication to our mission.

Before assuming her presidency at NBIA Disorders Association, Denton dedicated 16 years to education, serving as a Kindergarten and 1st-grade teacher and as a Primary Instructional Specialist. Denton lives in Houston along with her husband David, son Brady, and daughter Sydney.

Denton states, “I am truly grateful for the trust and confidence placed in me, and I am ready to embrace the challenges and opportunities that lie ahead. Under the guidance of Patty Wood, our organization has already made such remarkable achievements. I promise to continue the legacy and, as always, make our community proud of the work we do at NBIA Disorders Association. It is a great honor to lead us into the future.”

The Board is excited to partner with Denton as our organization moves into its next chapter.

Congratulations, Amber.

Passing the Torch

Passing the Torch: Wood to step down as our organization's president September 30th

September 2023

By Sarah Doerr

Board of Trustees Chair

Twenty-seven years after she founded the NBIA Disorders Association, leading it with unwavering dedication, compassion and inspiration that seeded nine sister organizations around the world, our president, Patricia Wood, is stepping down September 30th.

Wood will stay on for two years in a part-time role to mentor her successor, BPAN parent and board member, Amber Denton of Houston. She will also direct our organization’s research program. Her leadership nurtured a strong and stable organization marked by a long list of accomplishments. They include:

  • Establishing the biennial NBIA Disorders Association’s International Family Conference. Since Wood organized the first gathering in 2000, our community has come together every other year to reconnect, learn from one another and the experts, and celebrate the lives of our loved ones affected by NBIA disorders

  • Expanding an international community of NBIA researchers, including committee planning for eight scientific symposia that continue cultivating the world’s best minds to study NBIA. The symposia bring together experienced and early-career researchers to share and build upon one another’s work

  • Continuous fundraising to support NBIA research, resulting in the publication of scientific articles and the discovery of genes associated with certain NBIA disorders

  • Leading a memorable $250,000 campaign in 2009 to keep the lab of our premier researcher, Dr. Susan Hayflick, afloat when federal funding dried up

  • Being a world leader in NBIA and helping to create the NBIA Alliance. The alliance is the umbrella organization with our organization as fiscal sponsor of NBIA patient organizations in 10 countries that collaborate to support NBIA-affected families and educate the public, along with funding and promoting the advancement of potential treatments

  • Serving as a critical partner in the $7.8 million international grant known as TIRCON, for Treat Iron-Related Childhood-Onset Neurodegeneration. The TIRCON International Patient Registry was created, and the grant supported a PKAN clinical trial for deferiprone 

As impressive as each of these achievements is, the community Wood has built among NBIA families is her most significant contribution. When a family receives an NBIA diagnosis for a loved one and finds the NBIA Disorders Association, Wood is their first point of contact in our growing community. She offers support, information, connections and most importantly, hope, to hundreds of families. Wood says that a key reason she founded the NBIA Disorders Association was because of the loneliness and despair her family experienced when her daughter, Kimberly, was diagnosed with NBIA. She didn’t want other families to walk that rocky path alone.

“One of my goals from the start was to build a strong community so that we can emotionally support and learn from each other and find happiness and friendship as part of our journey in searching for treatments and cures for all our NBIA individuals,” she says.



 Patricia Wood announcing at the conference that she is stepping down as president on September 30. She welcomed Amber Denton to the stage as the next president, who then shared her vision for the future.

You can listen to both speeches here.

Wood announced in Houston at the biennial family conference in May that she would be stepping down. She received a standing ovation after speaking about the gratitude and honor she has felt while helping to shape the organization’s past, present and future. She has worked closely with her successor for the past four years and says she enthusiastically supports the board of trustees’ choice of Denton.


Denton has been a board member since 2019 and currently serves as vice president. She also chairs the organization’s Development Committee, the lead role in fundraising. She has been an active member of our community since her daughter Sydney’s BPAN diagnosis in 2017. Board members are confident in Denton’s leadership skills, empathy, and drive to lead our organization into its next chapter.

“It is with immense pride and dedication that I assume the role of president,” Denton says. “I am deeply honored to follow in the footsteps of Patricia Wood and continue the impactful work that she has done for our community.

With a profound commitment to advancing research, providing support to our families and raising awareness, I am eager to collaborate with all of you to drive positive change for those affected by NBIA disorders. My vision is to build upon the foundation of the past 27 years, ensuring that every individual and family touched by NBIA disorders finds solace, resources and hope within our community.”

For those of us who weren’t at that first family conference in 2000, it’s hard to imagine a time when there wasn’t an NBIA Disorders Association to provide community and connection in our corner of the rare disease world. We are thrilled to have Denton continue in the spirit of our outgoing leader. I speak for the board when I say, “Patty, your vision and passion will continue to inspire us for many years to come.”

Center of Excellence Award

NBIA Disorders Association awards first NBIA Center of Excellence in U.S.

September 2023

By James A. Bourgeois

The NBIA Disorders Association has awarded the Oregon Health & Science University in Portland its first Center of Excellence designation for exceptional work in NBIA care and research.


The NBIAcure team at Oregon Health & Science University are recognized for their exceptional work and receive the first Center of Excellence designation from NBIA Disorders Association at family conference in May.

The designation, made possible by the efforts of the NBIAcure team led by Dr. Susan Hayflick at OHSU, was announced at our organization’s international family conference in May. It recognizes the high-level of expertise that OHSU and NBIAcure bring to NBIA research and clinical care. Hayflick, Dr. Penny Hogarth and other members of the team are international NBIA leaders and have distinguished themselves in the field for decades.


“It’s a real honor to be recognized in this way,” Hayflick said, coming to the conference podium to receive a plaque with the designation.


 CoE Hayflick
 Dr. Susan Hayflick accepts Center of Excellence plaque from Dr. James Bourgeois, who serves on the board of trustees and is chair of the association’s Clinical and Research Development Committee.

The award is the culmination of a nearly yearlong effort by our Clinical and Research Development Committee, created last summer, to designate NBIA Disorders Association Centers of Excellence (COE) and Clinical Care Centers (CCC) in the United States. These designations help NBIA families find excellent and experienced NBIA care closer to home, with COEs being our highest classification level because of their clinical research activities.


Members of the committee use their professional and institutional connections to encourage further development of clinical care and research into NBIA disorders. The committee also partners with medical centers that seek to attain this recognition. The committee envisions a network of COE and CCCs to serve NBIA patients and their families, as well as collaborate with our organization on clinical care and clinical research.

Along with me, members of the committee are Kathleen Ayers of Sacramento, California; Steve Pirnie of Providence, Rhode Island; Loreen Pirnie also, of Providence; Eric Pozsgai of Columbus, Ohio; Maryann Ruchirushkul of Houston, Texas; Reed Mollins of High Falls, New York; and Cheryl Lamos of Albany, New York.

We welcome additional committee members who are in the health professions, the research community, and/or health care administration. Anyone who is interested in learning more can contact me at jbourgeois@ucdavis.edu.

James Bourgeois of Sacramento, California, serves on the NBIA Disorders Association Board of Trustees and works at the University of California, Davis, as Clinical Professor of Psychiatry. He is chair of the association’s Clinical and Research Development Committee.

Lockhart Research Update

BPAN researcher develops stem cell model, awaits funding for planned drug screening

September 2023

By Patricia Wood 

 Dr. Paul Lockhart of Murdoch Children's Research Institute of Melbourne, Austrailia, establishes "brain cell" model for BPAN research.

Dr. Paul Lockhart of Murdoch Children’s Research Institute in Melbourne, Australia, says that while his BPAN research established an important ‘brain cell’ model using stem cells from affected BPAN individuals, his next step — to screen drugs for treatment — awaits sufficient funding to proceed.

Lockhart received $60,561 in February 2020 from the 2019 Million Dollar Bike Ride grant
program that our families supported. He planned to do the drug screening after his initial findings, but the pandemic led to staffing shortages and much higher drug screening costs than anticipated. As a result, he returned $25,814 in unspent funds this spring. That money was added to this year’s funds raised for the University of Pennsylvania sponsored bike ride and will now help fund two $60,000 BPAN research grants in the current grant call underway. 

Lockhart says the model he developed with stem cells from BPAN individuals will be used to
screen 3,000 compounds approved by the Food and Drug Administration in the search for a
BPAN treatment. The screening process will require multi-year funding to identify drugs capable
of restoring the normal cell functioning called autophagy, which is the removal and recycling of
damaged cells.

Lockhart’s project was titled “Development of novel human stem cell models of BPAN for disease modeling and drug screening” and was part of a larger project that was the first research into BPAN undertaken in Australia. It was made possible in 2019 with an anonymous $200,000 donation in honor of Angus Hunter, who has BPAN. The Hunters live in Melbourne and are active in raising awareness and funds for BPAN research.

Lockhart’s team used skin cells from six affected children. These samples were converted into induced pluripotent stem cells (iPSCs), which can then be converted into almost any type of human cell.

The team also did gene editing to generate an identical matching (isogenic) iPSC that corrected the genetic change causing BPAN. The researchers converted these matched pairs into brain cells in a lab dish and analyzed them to determine what effect the genetic change was having on cell structure and function. These biochemical studies investigated how well the autophagy pathway operated in the mutant cells.


A talk on this work given at our 2021 family conference BPAN research update session can be viewed here starting at the 3:25 minute

Lockhart, who spoke at our 2021 family conference about this work, said that
a method from the iPSC was developed for successfully generating neurons
and also glia that essentially work normally. This demonstrated that there was
no significant impact of the genetic change on the ability of cells to survive,
convert to different types of brain cells and form the linkages between cells
that are critical for brain function.

Furthermore, analysis of the autophagy pathway demonstrated that this was
not functioning properly in affected cells compared to the controls. This finding
confirmed that the iPSC model could replicate what has been observed in other
cell and animal models, demonstrating its utility as a preclinical model to
understand the effect of BPAN on brain function. Although Lockhart was not
able to complete additional studies, his group demonstrated that rapamycin, an
FDA approved drug, could increase autophagy activity in the model.

This ‘brain cell’ preclinical model of BPAN is important, Lockhart said, because
it “means we can generate the brain cell types that are specifically affected in 
individuals with BPAN. This includes cortical neurons, important for cognitive function, and dopaminergic neurons, which are important for movement.”

Lockhart plans to publish his results and will undertake drug screening when funding allows.



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