Natural History Study - Mitochondrial Disease

Conditions

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

Eligibility Criteria

Sex

ALL

Age

4 Years - N/A

Healthy Volunteers

Accepted

Study Details

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.

Key Dates

Start date

Jul 31, 2004

Status verified

Jan 2026

Primary completion

Jul 31, 2026

Completion

Jul 31, 2026

Study Design

Enrollment

300 participants (estimated)

Arms

• Arm: mtDNA mutation
  m.3243 A\>G carriers and their maternal relatives Other mutations in the mitochondrial genome may be included
• Arm: 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

• Kris Engelstad, MS
  2123056834
  [email protected]

Locations (1)

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