Tissue Sample Study for Mitochondrial Disorders

Columbia University

Status: Invitation-only

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

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT01803906

P01HD032062

AAAB5754

Details and patient eligibility

About

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.

Full 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.

Enrollment: 6,900 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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

Trial design

6,900 participants in 1 patient group

Mitochondrial disease

Description:

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