Tissue Sample Study for Mitochondrial Disorders

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.

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Key information

Conditions

Mitochondrial Disorders Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Kearns Sayer LHON Leigh Disease Leigh's Disease MELAS MELAS Syndrome MNGIE Metabolic Diseases Metabolism, Inborn Errors Mitochondrial Depletion Syndrome Mitochondrial Disease Mitochondrial Diseases Mitochondrial Encephalomyopathies Mitochondrial Myopathies Muscular Diseases Musculoskeletal Diseases NARP Nervous System Diseases Neuromuscular Diseases Nutritional and Metabolic Diseases Pyruvate Metabolism, Inborn Errors Vascular Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Columbia University

New York, 10032, United States

About this study

Presently, the investigators know of about 200 mitochondrial disorders. The investigators know that there are about 1,300 genes responsible for mitochondrial function. Thus, there are a lot of mutated genes to be discovered out there. Currently, most patients with suspected or known mitochondrial disorders do not have genetic confirmation of the disease.

The goal of this project is to perform biochemical and DNA analysis on tissue samples of patients with mitochondrial disorders to find new genes that might be involved in mitochondrial dysfunction.

Leftover patient tissue samples will be obtained for analysis from within the Columbia Presbyterian Medical Center. Left over patient samples may also be sent from outside the institution. This is not a "first-step" in the diagnostic process, but rather an option for evaluation in patient samples for which no known diagnosis or genetic confirmation has been made.

The research laboratory does not guarantee that a sample will be analyzed. Sample analysis is performed according to research interest. If they choose, patients can be contacted should laboratory findings provide insight into their disease.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Patients suspected of having a mitochondrial disorder
Patients who may carry a genetic mutation or be related to someone with a genetic mutation which may cause a mitochondrial disorder

Exclusion criteria

Patients who are not suspected of having a mitochondrial disorder

Treatment and study plan

Primary outcomes

Number of patients with reduced respiratory chain enzyme levels

Time frame: Up to 2 years

Biochemical studies involving mitochondrial function. The levels will be compared to normal levels.

Secondary outcomes

Number of new genetic mutations

Time frame: Up to 2 years

Evaluation of potential genetic interaction in clinical signs and symptoms.

Sponsors and collaborators

Lead sponsor

Columbia University

Other

Collaborators

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

Registry information

Official study title

Tissue Study for Mitochondrial Disorders

Important dates

Study start: 2012
Primary completion: 2026
Study completion: 2026
First posted: Mar 4, 2013
Registry last updated: Jan 7, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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