RecruitingNCT01532791

Natural History Study - Mitochondrial Disease

Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations


Sponsor

Columbia University

Enrollment

300 participants

Start Date

Jul 1, 2004

Study Type

OBSERVATIONAL

Conditions

Summary

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.


Eligibility

Min Age: 4 Years

Plain Language Summary

Simplified for easier understanding

This natural history study follows people who carry the m.3243 A>G mitochondrial DNA mutation — a genetic change that can cause a range of conditions including MELAS syndrome, hearing loss, and diabetes. Researchers also enroll family members to understand how the mutation is inherited and how it affects health across generations. You may be eligible if: - You are 4 years of age or older - You are a known carrier of the m.3243 A>G mitochondrial mutation - OR you are maternally related to someone who carries this mutation - OR you are a non-maternally-related family member You may NOT be eligible if: - You are under 4 years of age - There is no confirmed m.3243 A>G mutation in your family Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(1)

Columbia University

New York, New York, United States

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NCT01532791