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Natural History Study - Mitochondrial Disease

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

Who can join

Ages 4 and older · All sexes · Healthy volunteers welcome

Inclusion Criteria:

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 Criteria:

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

About the 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.

Sponsor: Columbia University · Participants: 300 · Started: 2004-07

Contact the study team

• Kris Engelstad, MS · Phone: 2123056834

Official record on ClinicalTrials.gov — NCT01532791

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Oct 2, 2026. Each study sets its own eligibility; the study team decides who can join.