Tissue Sample Study for Mitochondrial Disorders

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2015 by Columbia University
National Institutes of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Information provided by (Responsible Party):
Salvatore DiMauro, MD, Columbia University
ClinicalTrials.gov Identifier:
First received: August 31, 2012
Last updated: May 5, 2015
Last verified: May 2015
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 Disorders
Mitochondrial Disease
Kearns Sayer
Mitochondrial Depletion Syndrome
Leigh's Disease

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Tissue Study for Mitochondrial Disorders

Resource links provided by NLM:

Further study details as provided by Columbia University:

Primary Outcome Measures:
  • 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.

Secondary Outcome Measures:
  • 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
Any type of tissue could be submitted, however, generally blood, urine, buccal cell (cheek), and muscle are sent.

Estimated Enrollment: 6900
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)
Mitochondrial disease
Patients with known or suspected DNA mutations that affect mitochondrial function. Patients with suspected mitochondrial disorders

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.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
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).

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01803906

Contact: Kris Engelstad, MS CGC 2123056834 ke4@columbia.edu
Contact: Pablo Abreu, BS 2123052010 pab2120@columbia.edu

United States, New York
Columbia University Recruiting
New York City, New York, United States, 10032
Contact: Salvatore DiMauro, MD    212-305-1662    sd12@columbia.edu   
Contact: Kris Engelstad, MS CGC    212-305-6834    ke4@cumc.columbia.edu   
Principal Investigator: Salvator DiMauro, PhD         
Sponsors and Collaborators
Columbia University
National Institutes of Health (NIH)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Principal Investigator: Salvatore DiMauro, MD Columbia University
  More Information

Additional Information:
Responsible Party: Salvatore DiMauro, MD, Lucy G. Moses Professor of Neurology, Columbia University
ClinicalTrials.gov Identifier: NCT01803906     History of Changes
Other Study ID Numbers: AAAB5754  P01HD032062 
Study First Received: August 31, 2012
Last Updated: May 5, 2015
Health Authority: United States: Institutional Review Board

Keywords provided by Columbia University:
mitochondrial disorder
oxidative phosphorylation
oxidative phosphorylation disorders
respiratory chain disorders
mitochondrial disease
kearns sayer
Mitochondrial depletion syndrome
Leigh's disease

Additional relevant MeSH terms:
Pyruvate Metabolism, Inborn Errors
Leigh Disease
Mitochondrial Diseases
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Carbohydrate Metabolism, Inborn Errors
Central Nervous System Diseases
Genetic Diseases, Inborn
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases
Pathologic Processes

ClinicalTrials.gov processed this record on May 26, 2016