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Tissue Sample Study for Mitochondrial Disorders

NCT01803906 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 6900

Last updated 2026-01-07

No results posted yet for this study

Summary

The investigators are studying patients with undefined mitochondrial diseases to identify genetic mutations in nuclear or mitochondrial Deoxyribonucleic Acid (DNA). Most patients with suspected or known mitochondrial diseases have no genetic confirmation. The investigators expect that evaluating tissue samples from patients with mitochondrial disorders will lead us to discover mutations in new or known genes causing mitochondrial dysfunction.

Conditions

  • Mitochondrial Disorders
  • Mitochondrial Disease
  • Melas
  • Kearns Sayer
  • NARP
  • MNGIE
  • LHON
  • Mitochondrial Depletion Syndrome
  • Leigh's Disease

Sponsors & Collaborators

  • National Institutes of Health (NIH)

    collaborator NIH

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

    collaborator NIH

  • Columbia University

    lead OTHER

Principal Investigators

  • Michio Hirano, MD · Columbia University

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2012-02-29
Primary Completion
2026-12-31
Completion
2026-12-31

Countries

  • United States

Study Locations

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Entities

Diseases
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 NCT01803906 on ClinicalTrials.gov