Recruiting

Observational Study

Sponsor:

Columbia University

Code:

NCT01532791

Conditions

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

Eligibility Criteria

Sex: All

Age: 4+

Healthy Volunteers: Accepted

Study Details

Brief 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.

Conditions

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

Study ID

NCT01532791

Start date

Jul, 2004

Status verified date

Jan, 2026

Completion date

Jul, 2026

Anticipated

Primary completion date

Jul, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 4+

Healthy Volunteers: Accepted

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.

Study Design

Enrollment

300 participants

Anticipated

Interventions and Outcome Measures

Arms

mtDNA mutation

m.3243 A>G carriers and their maternal relatives Other mutations in the mitochondrial genome may be included

Control

controls (people not maternally related to mutation carriers) Preference is for married in relatives

Primary outcome measure

  • MRI/MRS [ Time Frame: 2-3 years ]

Central Contacts and Locations

Central contacts

Kris Engelstad, MS

2123056834ke4@cumc.columbia.edu

Locations

Columbia University

Recruiting

New York, New York, United States, 10032

Contacts

Kris Engelstad, MS

'-212-305-6834ke4@cumc.columbia.edu

More Information

Sponsor

Columbia University

Last update posted

Jan 23, 2026

Last verified

Jan, 2026

Keywords

  • MELAS
  • mitochondrial DNA mutation
  • mtDNA mutation
  • mitochondrial DNA
  • mitochondria
  • m.3243A>G mutation

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Columbia University on 2026-01-23.