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NCT01803906 Clinical Trial

Tissue Sample Study for Mitochondrial Disorders

Mitochondrial Disease Clinical Trial

Official title:
Tissue Study for Mitochondrial Disorders

Clinical Trial Details — Status: Enrolling by invitation

Administrative data
NCT number NCT01803906
Other study ID # AAAB5754
Secondary ID P01HD032062
Status Enrolling by invitation
Phase
First received
Last updated
Start date February 2012
Est. completion date February 2025

Study information
Verified date May 2024
Source Columbia University
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.

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.

Recruitment information / eligibility
Status Enrolling by invitation
Enrollment 6900
Est. completion date February 2025
Est. primary completion date February 2025
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group N/A and older
Eligibility 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

Study Design

Related Conditions & MeSH terms

Locations
Country Name City State
United States Columbia University New York New York

Sponsors (3)
Lead Sponsor Collaborator
Columbia University Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH)

Country where clinical trial is conducted

United States, 

Outcome
Type Measure Description Time frame Safety issue
Primary Number of patients with reduced respiratory chain enzyme levels Biochemical studies involving mitochondrial function. The levels will be compared to normal levels. Up to 2 years
Secondary Number of new genetic mutations Evaluation of potential genetic interaction in clinical signs and symptoms. Up to 2 years
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