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Study identifier: NCT01532791 Synced from ClinicalTrials.gov · July 29, 2026
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Natural History Study - Mitochondrial Disease

Condition: MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier  ·  Sponsor: Columbia University

PhaseN/A
Planned participants300
Who can joinAll sexes, 4 Years to no upper limit
Healthy volunteersYes

About this study

Carriers of the m.3242A\>G mutation often have clinical symptoms which can include migraines, seizures, strokes, hearing loss, balance issues, gastrointestinal issues, and many other symptoms. The investigators would like to learn more about these disorders and have designed a "Natural History Study" to monitor these conditions over time so that physicians and scientists can not only understand the problems that patients have, but work on developing treatments. The focus of the current work is to evaluate known mutation carriers of the m.3243A\>G (mitochondrial DNA) and their maternal relatives (carrier status not a requirement for participation). Paternal relatives will serve as controls. This study involves no treatment.

This description comes directly from the study's public registry record.

Talk to the study team

Kris Engelstad, MS  ·  2123056834  ·  ke4@cumc.columbia.edu

Always discuss trial participation with your own doctor first.

Locations (1)

Columbia UniversityNew York, New York, United StatesRecruiting

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Source record: clinicaltrials.gov/study/NCT01532791