A global study called mitoSHARE, led by the United Mitochondrial Disease Foundation, is working to improve research on mitochondrial disease by collecting real-life health information from patients around the world. By gathering this information, mitoSHARE aims to helps doctors and scientists learn more about mitochondrial disease, improve diagnosis and develop new treatments.
Details about the study will be presented at the 2026 Muscular Dystrophy Association (MDA) Clinical & Scientific Conference in Orlando, Florida, March 8 to 11, 2026.
mitoSHARE is a patient-populated registry study, which means that information is gathered directly from patients rather than relying on electronic health records or doctor-created documents. This helps researchers understand what living with the disease is really like.
The registry is open to anyone with any type of mitochondrial disease, such as thymidine kinase 2 deficiency (TK2d), even if they are not fully diagnosed. Both children and adults can join.
Since it started in 2022, mitoSHARE has supported three research studies and also provides helpful resources and support tools for patients.
Read more about TK2d treatment and care
So far, nearly 1,600 people have joined mitoSHARE; the study includes participants from 58 countries, though most live in the United States. Most participants are between 31 and 50 years old, and about 68% are female.
While 49% of participants said they have a genetic test that confirms their diagnosis, about 38% said they think they may have mitochondrial disease but do not yet have a confirmed diagnosis. To help these patients, mitoSHARE offered free genetic testing to those who qualified, and 40% of surveyed participants were eligible. More than 400 genetic test results have been added to the registry to help researchers study the disease more closely.
“mitoSHARE continues to grow and demonstrate the impact of a global, patient-populated registry for mitochondrial disease,” the researchers said.
In the future, they plan to offer the registry in more languages. This will help more people around the world join and share their experiences, leading to better research and new treatments.
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