Thank you to the many researchers, clinicians, and generous donors that helped us build research momentum in 2023. Your support brought us closer to our goal of discovering treatments to help our sons Carson and Chase and other patients with MEPAN Syndrome.
Below is a year-end update on MEPAN Foundation research efforts and a preview of what lies ahead in 2024.
2023 Accomplishments
Gene Therapy
Pilot funding was provided to develop and test a gene therapy with a group at the University of Florida. The team has identified AAV9 constructs that are designed to have good expression in the central nervous system, which is most affected in patients with MEPAN Syndrome.
New Disease Model
We funded a project at Kenyon College that developed a new disease model of MEPAN in a type of roundworm that is commonly used in scientific research. The team tested drug combinations in a C. Elegans knockout to look for potentially synergistic effects of different FDA-approved drugs.
Drug Repurposing
Drug repurposing experiments at the University of Oulu in Finland are ongoing, and we expanded these efforts by funding an offshoot project with Perlara to test more FDA-approved drugs using MEPAN patient skin cells in a lab at UCLA.
Rare Disease Collaboration
We began to work more closely with the United Mitochondrial Disease Foundation (UMDF) and other rare disease patient advocacy groups to share best practices and pool resources to speed the development of possible treatments. UMDF had a specific program focused on mitochondrial fatty acid synthesis (mtFAS, the pathway that is affected in MEPAN) at their annual scientific symposium in June, and also organized an online meeting of mtFAS researchers in September. View those proceedings here.
Expanding the MEPAN Community
We connected with families and researchers in the U.S., France and Italy about newly diagnosed patients with MEPAN Syndrome. There are now nearly 40 patients worldwide.
Attracting Industry Support
MEPAN Foundation received a $5,000 grant from Horizon Therapeutics (since acquired by Amgen) to help advance programs that will benefit the MEPAN patient community.
2024 Research Outlook
University of Texas Project
The Ekker Lab at Dell Medical School at the University of Texas at Austin has agreed to create a zebrafish model of MEPAN Syndrome that can be used to test potential drugs and therapies. Learn more.
Moving Gene Therapy Forward
The next phases in the gene therapy project involve testing the potential therapy in two mouse models of MEPAN at Children's Hospital Philadelphia and the University of Oulu. This is an important step in determining whether the treatment will show promise in patients.
Free Genetic Testing
Equitable access to genetic testing for people with a suspected genetic condition remains a challenge. We are partnering with Probably Genetic to offer free genetic testing that can help persons with a suspected genetic condition similar to MEPAN to get a conclusive diagnosis.
Critical Path Institute (C-Path)
MEPAN Foundation will join C-Path's taskforce on accelerating drug development for mitochondrial and inherited metabolic diseases.
Additional Drug Repurposing
Continued experiments in a variety of MEPAN disease models to identify FDA-approved drugs that may help improve patient symptoms.
Get Involved
If you have questions about MEPAN research or would like to get more involved with our organization, feel free to reach out at danny@mepan.org or 415-407-6491. We value your input and would love to hear from you.