Tissue Sample Study for Mitochondrial Disorders

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

• Registration Number: NCT01803906
• Lead Sponsor: Columbia University

Brief 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.

Detailed Description

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.

Study Timeline

• Study Start: 2012-02
• Study First Submitted: 2012-08-31
• Study First Submitted QC: 2013-03-01
• Study First Posted: 2013-03-04
• Status Verified: 2024-05
• Last Update Submitted: 2024-05-09
• Last Update Posted: 2024-05-13
• Primary Completion: 2025-02
• Study Completion: 2025-02

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 6900

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

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Exclusion Criteria

• Patients who are not suspected of having a mitochondrial disorder

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Number of patients with reduced respiratory chain enzyme levels	Up to 2 years	Biochemical studies involving mitochondrial function. The levels will be compared to normal levels.

Secondary Outcome Measures

Name	Time	Method
Number of new genetic mutations	Up to 2 years	Evaluation of potential genetic interaction in clinical signs and symptoms.

Trial Locations

Locations (1)

Columbia University; 🇺🇸 New York, New York, United States