Tissue Study for Mitochondrial Disorders
Overview
- Phase
- Not Applicable
- Intervention
- Mitochondrial disease
- Conditions
- Mitochondrial Disorders
- Sponsor
- Columbia University
- Enrollment
- 6900
- Locations
- 1
- Primary Endpoint
- Number of patients with reduced respiratory chain enzyme levels
- Status
- Enrolling By Invitation
- Last Updated
- 3 months ago
Overview
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.
Investigators
Eligibility Criteria
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
Arms & Interventions
Mitochondrial disease
Patients with known or suspected DNA mutations that affect mitochondrial function. Patients with suspected mitochondrial disorders
Outcomes
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(Up to 2 years)