MedTrace Logo

Natural History Study - Mitochondrial Disease

NCT01532791 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 300

Last updated 2026-01-23

No results posted yet for this study

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

Sponsors & Collaborators

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

    collaborator NIH

  • Columbia University

    lead OTHER

Principal Investigators

Eligibility

Min Age
4 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2004-07-31
Primary Completion
2026-07-31
Completion
2026-07-31

Countries

  • United States

Study Locations

More Related Trials

Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01532791 on ClinicalTrials.gov