NBIA NEWS & INFORMATION

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.

The 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.

The 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.

This 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.

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

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

June 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!