UMDF Partners with COMBINEDBrain to Develop a Mitochondrial Disease Biorepository

UMDF has partnered with the nonprofit COMBINEDBrain to develop a mitochondrial disease biorepository hosted on mitoSHARE, UMDF’s patient registry.

Patients with any form of a genetically confirmed mitochondrial disease can now participate in the biorepository by donating a sample or samples — blood, urine, or nasal swab — at any of the ten upcoming COMBINEDBrain roadshows across the United States, including the Clinical Research Pavilion at UMDF’s Mitochondrial Medicine Conference 2025 in St. Louis.

“A biorepository is a crucial tool to better understand a disease, develop new treatments, and work toward potential cures,” said Dr. Philip Yeske, UMDF’s Science and Alliance Officer. “Having a robust, well-curated biorepository focused on mitochondrial disease has been a major ask of the research community and industry for years, but it’s complex logistically. Partnering with COMBINEDBrain allows UMDF to focus on patient participation and marketing, while they work on collecting, housing and distributing samples.”

Dr. Yeske gave multiple examples of how such data could be used, including advancing academic research on promising new mitochondrial assays or facilitating screening of drug candidates for an early-stage biotech company.

All biorepository data is deidentified utilizing Clinical Research ID (CRID), which enables researchers to reuse, merge and share de-identified data without using private health information.

Participating in the biorepository is a three-step process:

1. Join mitoSHARE, UMDF’s patient registry, which is the home for all types of patient data at umdf.org/mitoSHARE.
2. After joining, participants will need to upload results of genetic testing to be curated by the mitoSHARE genetic counseling team. This process takes 3-4 weeks, so participants are encouraged to allow plenty of time.
3. Once eligibility is confirmed, an invitation will be sent to participate in one of the collection points available at the ten events across the country, including Mitochondrial Medicine Conference.
  COMBINEDBrain — the Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders — is a nonprofit research organization dedicated to accelerating the development of treatments for rare neurodevelopmental disorders. They work collaboratively with patient advocacy groups like UMDF, researchers, and industry partners to create standardized outcome measures, identify biomarkers, and support clinical trial readiness. All samples collected are stored at the Van Andel Institute.
  
  If you don’t plan to attend Mitochondrial Medicine Conference in person this year, COMBINEDBrain will be on-site at ten other events across the country where mitochondrial disease patients can have a sample collected in partnership with other rare disease conferences (click here for signup), including:

- Nashville, April 25-26 (Hereditary Neuropathy Foundation)
- Westminster, CO, June 13-15 (Coalition to Cure CHD2)
- Phoenix, AZ, June 17-28 (Prader Willi Syndrome)
- Boston, MA, July 10-12 (Med13L Foundation, CTNNB1 Connect & Cure)
- Chicago, IL, July 17-18 (Koolen de Cries Syndrome Foundation)
- Denver, CO, July 18-19 (CSNK2A1 Foundation)
- Windsor Locks, CT (The Stiff Person Syndrome Research Foundation)
- Philadelphia, PA, Sept/Oct TBD (KCNQ2 Cure Alliance)
- Atlanta, GA, Dec 4-5 (SRF, Cure GABA-A Variants, SLC6A1 Connect)