Actively Recruiting
Natural History Study - Mitochondrial Disease
Led by Columbia University · Updated on 2026-01-23
300
Participants Needed
1
Research Sites
1147 weeks
Total Duration
On this page
Sponsors
C
Columbia University
Lead Sponsor
E
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborating Sponsor
AI-Summary
What this Trial 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
Official Title
Natural History Study - Mitochondrial Disease
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Known carrier of the m.3243 A>G mitochondrial mutation, or maternally related to someone who carries the m.3243 A>G mitochondrial mutation
- A family member who is not maternally related to someone who carries the m.3243 A>G mitochondrial mutation
You will not qualify if you...
- Younger than 4 years of age
- No confirmed m.3243 A>G mitochondrial DNA mutation in the family.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Columbia University
New York, New York, United States, 10032
Actively Recruiting
Research Team
K
Kris Engelstad, MS
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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