Tissue Sample Study for Mitochondrial Disorders
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.
Mitochondrial Depletion Syndrome
|Study Design:||Observational Model: Case-Only
Time Perspective: Prospective
|Official Title:||Tissue Study for Mitochondrial Disorders|
- Respiratory chain enzyme levels [ Time Frame: Up to 2 years ] [ Designated as safety issue: No ]Biochemical studies involving mitochondrial function. The levels will be compared to normal levels.
- Number of new genes related to mitochondrial function [ Time Frame: Up to 2 years ] [ Designated as safety issue: No ]
The number of new genes related to mitochondrial function, the number of genetic modifiers related to known genes that cause mitochondrial disorders, the degree (0-100%) of genotype/phenotype correlation.
Biospecimen Retention: Samples With DNA
Any type of tissue could be submitted, however, generally blood, urine, buccal cell (cheek), and muscle are sent.
|Study Start Date:||February 2012|
|Estimated Study Completion Date:||January 2020|
|Estimated Primary Completion Date:||January 2020 (Final data collection date for primary outcome measure)|
Patients with known or possible mitochondrial disorders
One group of patients with known or possible mitochondrial disorders.
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.
|Contact: Kris Engelstad, MS CGCfirstname.lastname@example.org|
|Contact: Pablo Abreu, BSemail@example.com|
|United States, New York|
|New York City, New York, United States, 10032|
|Contact: Salvatore DiMauro, MD 212-305-1662 firstname.lastname@example.org|
|Contact: Kris Engelstad, MS CGC 212-305-6834 email@example.com|
|Principal Investigator: Salvator DiMauro, PhD|
|Principal Investigator:||Salvatore DiMauro, MD||Columbia University|