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

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

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

Inclusion Criteria2

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

Exclusion Criteria2

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

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Locations(1)

Columbia University

New York, New York, United States

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NCT01532791