Clinical trial NCT01803906: Tissue Sample Study for Mitochondrial Disorders
Official title: Tissue Study for Mitochondrial Disorders
Study type: OBSERVATIONAL
Overall status: ENROLLING_BY_INVITATION
Conditions: Mitochondrial Disorders
Mitochondrial Disease
Melas
Kearns Sayer
NARP
MNGIE
LHON
Mitochondrial Depletion Syndrome
Leigh's Disease
Keywords: mitochondrial disorder
mitochondria
oxidative phosphorylation
oxidative phosphorylation disorders
respiratory chain disorders
mitochondrial disease
melas
kearns sayer
NARP
MNGIE
LHON
Mitochondrial depletion syndrome
Leigh's disease
Lead sponsor: Columbia University
Sponsor class: OTHER
Collaborators: name: National Institutes of Health (NIH)
name: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
First posted: 2013-03-04
Enrollment: 6900
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients of all ages, race, gender with known or suspected mitochondrial disorders and their carrier relatives (if requested).

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.

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

Primary outcomes:
measure: Number of patients with reduced respiratory chain enzyme levels
timeFrame: Up to 2 years
Secondary outcomes:
measure: Number of new genetic mutations
timeFrame: Up to 2 years
Other outcomes:
Locations:
city: New York
country: United States
facility: Columbia University
state: New York
Study officials:
affiliation: Columbia University
name: Michio Hirano, MD
role: PRINCIPAL_INVESTIGATOR
References: