Scientists launch massive mitochondrial disease registry to unlock secrets of rare disorders

NCT ID NCT01694940

Recruiting now Knowledge-focused Sponsor: Columbia University Source: ClinicalTrials.gov ↗

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

Summary

This study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gather data that can help scientists better understand these rare conditions and potentially guide future treatments.

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Conditions

The condition(s) this trial relates to.

Barth syndrome brain disorder Deafness diabetes mellitus inborn mitochondrial metabolism disorder inborn mitochondrial myopathy Kearns-Sayre syndrome lactic acidosis Leber hereditary optic neuropathy Leigh syndrome Leukoencephalopathies maternally-inherited Leigh syndrome MELAS syndrome MERRF syndrome mitochondrial complex I deficiency mitochondrial complex IV deficiency, nuclear-type mitochondrial disease mitochondrial respiratory chain complex deficiency NARP syndrome progressive external ophthalmoplegia stroke disorder syndromic disease Visceral myopathy familial external ophthalmoplegia

As listed by the trial registrant

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

DELETION AND DUPLICATION OF MITOCHONDRIAL DNA DISORDER OF MITOCHONDRIAL RESPIRATORY CHAIN COMPLEXES MITOCHONDRIAL DISEASES MITOCHONDRIAL DISORDERS MITOCHONDRIAL GENETIC DISORDERS

Contacts and locations

Locations

Akron Children's Hospital
RECRUITING

Akron, Ohio, 44308, United States
Baylor College of Medicine
RECRUITING

Houston, Texas, 77030, United States
Case Western Reserve University
RECRUITING

Clevland, Ohio, 44106, United States
Children's Hospital of Colorado
RECRUITING

Aurora, Colorado, 80045, United States
Children's Hospital of Pittsburgh
RECRUITING

Pittsburgh, Pennsylvania, 15224, United States
Children's National Medical Center
RECRUITING

Washington D.C., District of Columbia, 20010, United States
Cleveland Clinic
RECRUITING

Cleveland, Ohio, 44195, United States
Columbia University Medical Center
RECRUITING

New York, New York, 10032, United States
Lucile Packard Children's Hospital
RECRUITING

Stanford, California, 94305, United States
Massachusetts General Hospital
RECRUITING

Boston, Massachusetts, 02115, United States
Mayo Clinic
RECRUITING

Rochester, Minnesota, 55902, United States
McMaster University
RECRUITING

Hamilton, Ontario, ON L8N 3Z5, Canada
Seattle Children's Hospital and Regional Medical Center
RECRUITING

Seattle, Washington, 98105, United States
The Children's Hospital of Philadelphia
RECRUITING

Philadelphia, Pennsylvania, 19104, United States
University of California San Diego
RECRUITING

San Diego, California, 92103, United States
University of Florida
RECRUITING

Gainsville, Florida, 32610, United States
Virtual Site (Remote enrollment)
RECRUITING

New York, New York, 10032, United States

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