Tissue Sample Study for Mitochondrial Disorders
Mitochondrial Depletion Syndrome
|Study Design:||Observational Model: Case-Only
Time Perspective: Prospective
|Official Title:||Tissue Study for Mitochondrial Disorders|
- number of patients with reduced 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 genetic mutations [ Time Frame: Up to 2 years ] [ Designated as safety issue: No ]Evaluation of potential genetic interaction in clinical signs and symptoms.
Biospecimen Retention: Samples With DNA
|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 suspected DNA mutations that affect mitochondrial function. Patients with suspected 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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01803906
|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|