Clinical Trial: Tissue Sample Study for Mitochondrial Disorders

Study Status: Enrolling by invitation
Recruit Status: Enrolling by invitation
Study Type: Observational

Official Title: Tissue Study for Mitochondrial Disorders

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 Summary:

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.

Sponsor: Columbia University

Current Primary Outcome: Number of patients with reduced respiratory chain enzyme levels [ Time Frame: Up to 2 years ]

Original Primary Outcome: Respiratory chain enzyme levels [ Time Frame: Up to 2 years ]

Current Secondary Outcome: Number of new genetic mutations [ Time Frame: Up to 2 years ]

Original Secondary Outcome: Number of new genes related to mitochondrial function [ Time Frame: Up to 2 years ]

Information By: Columbia University

Dates:
Date Received: August 31, 2012
Date Started: February 2012
Date Completion: January 2020
Last Updated: August 9, 2016
Last Verified: August 2016