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Tissue Sample Study for Mitochondrial Disorders

This study is enrolling participants by invitation only.
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 Identifier:
First received: August 31, 2012
Last updated: August 9, 2016
Last verified: August 2016
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 Melas Kearns Sayer NARP MNGIE LHON 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 Salvatore DiMauro, MD, Columbia University:

Primary Outcome Measures:
  • Number of patients with reduced respiratory chain enzyme levels [ Time Frame: Up to 2 years ]
    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 ]
    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.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
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 identifier: NCT01803906

United States, New York
Columbia University
New York City, New York, United States, 10032
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 Identifier: NCT01803906     History of Changes
Other Study ID Numbers: AAAB5754
P01HD032062 ( U.S. NIH Grant/Contract )
Study First Received: August 31, 2012
Last Updated: August 9, 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: When applicable we will submit manuscript (s) describing the findings

Keywords provided by Salvatore DiMauro, MD, 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:
Mitochondrial Diseases
Leigh Disease
Pathologic Processes
Metabolic Diseases
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Pyruvate Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors processed this record on September 21, 2017