Tissue Sample Study for Mitochondrial Disorders

Status Enrolling by invitation

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.

Clinical Trial 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. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT01803906
Study type	Observational
Source	Columbia University
Contact
Status	Enrolling by invitation
Phase
Start date	February 2012
Completion date	February 2025

View Details

See also
Status	Clinical Trial	Phase
Completed	`NCT02311257` - Survey on Supplement Use in Mitochondrial Disease	N/A
Terminated	`NCT01001585` - Anesthetic Effects in Mitochondrial Disease	N/A
Completed	`NCT01642056` - EPI-743 for Metabolism or Mitochondrial Disorders	Phase 1/Phase 2
Recruiting	`NCT04419870` - Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity During the COVID19 Pandemic
Completed	`NCT00786539` - Mitochondria Inborn Errors of Metabolism and ANT Defects in Mitochondria Diseases
Active, not recruiting	`NCT02000284` - Mitochondrial Dysfunction in Autism Spectrum Disorder
Completed	`NCT04643249` - Drug-drug Interaction Study of KL1333 in Healthy Subjects	Phase 1
Completed	`NCT02544217` - A Dose-escalating Clinical Trial With KH176	Phase 1
Completed	`NCT02154711` - Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease
Completed	`NCT01264471` - Mechanisms of Mitochondrial Defects in Gulf War Syndrome	N/A
Completed	`NCT00829270` - Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques	N/A
Completed	`NCT02745938` - GDF-15 as a Biomarker for Mitochondrial Disease	N/A
Completed	`NCT01776918` - Energy Requirements in Mitochondrial Disease	N/A
Completed	`NCT01301235` - Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics in Patients With Mitochondrial Myopathy	N/A
Completed	`NCT02985710` - Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan	N/A
Recruiting	`NCT05241262` - Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels	Phase 1
Completed	`NCT02678637` - Calf Muscle Strength in Mitochondrial Diseases	N/A