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Natural History Study - Mitochondrial Disease

Recruitingn/aAges 4 Years - anyAllColumbia University
NCT01532791 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
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.
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What it tests

  • Not listed
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Where

1 site
Columbia University
New York, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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