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Natural History Study - Mitochondrial Disease

Columbia University · with Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · NCT01532791

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 4+ · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
300
US sites recruiting
1
Study start
July 2004
Record last updated
January 23, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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.

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

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria

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.

Recruiting US locations

  • Columbia University

    New York, NY 10032

    Site contact: Kris Engelstad, MS · '-212-305-6834 · ke4@cumc.columbia.edu

Study contacts (from the official record)

  • Kris Engelstad, MS · 2123056834 · ke4@cumc.columbia.edu
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Natural History Study - Mitochondrial Disease (NCT01532791) | Bored Studies