Massive gene hunt launched for mysterious mitochondrial diseases

NCT ID NCT01803906

First seen Jun 27, 2026 ยท Last updated Jun 27, 2026

Summary

This study aims to discover new genetic mutations that cause mitochondrial disorders by analyzing tissue samples from up to 6,900 participants. It includes people with suspected or known mitochondrial diseases, such as MELAS or Leigh's Disease, who lack a genetic diagnosis. The research focuses on measuring respiratory chain enzyme levels and identifying new mutations, but does not offer any treatment or direct benefit to participants.

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Conditions

The condition(s) this trial relates to.

inborn mitochondrial metabolism disorder Kearns-Sayre syndrome Leber hereditary optic neuropathy Leigh syndrome MELAS syndrome mitochondrial disease mitochondrial DNA depletion syndrome mitochondrial neurogastrointestinal encephalomyopathy NARP syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • Columbia University

    New York, New York, 10032, United States