Natural History Study - Mitochondrial Disease

Recruiting now

Conditions studied: MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier

In brief

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.

Key facts

Study ID

NCT01532791

Run by

Columbia University

People needed

300

Starts

2004-07-01

Expected to finish

2026-07-01

Last updated by the study team

2026-01-23

Who can join

Age: 4 and older. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• Known carrier of a the m.3243 A>G mitochondrial mutation, ,or Maternally related to someone who carries the m.3243A>G mitochondrial mutation.
• A family member who is not maternally related to someone who carries the m.3243A>G mitochondrial mutation

You may not qualify if…

• Younger than 4 years of age
• No confirmed m.3243 A>G mitochondrial DNA mutation in the family.

Where it is running

• Columbia University — New York, New York, United States (enrolling)

Full record on ClinicalTrials.gov

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