Tissue Sample Study for Mitochondrial Disorders

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

6900 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-02-29

Study Completion Date

2026-12-31

Brief Summary

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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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Detailed Description

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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.

Conditions

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

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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Mitochondrial disease

Patients with known or suspected DNA mutations that affect mitochondrial function. Patients with suspected mitochondrial disorders

No interventions assigned to this group

Eligibility Criteria

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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