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.
