Tissue Sample Study for Mitochondrial Disorders

Tissue 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.

Study Overview

• Status: Enrolling by invitation
• Conditions: Mitochondrial Disease; Mitochondrial Disorders; Melas; Kearns Sayer; NARP; MNGIE; LHON; Mitochondrial Depletion Syndrome; Leigh's Disease

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.

• Study Type: Observational
• Enrollment (Estimated): 6900

Contacts and Locations

Study Locations

• United States
  • New York
    • New York, New York, United States, 10032
      • Columbia University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• 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).

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Mitochondrial disease; Patients with known or suspected DNA mutations that affect mitochondrial function. Patients with suspected mitochondrial disorders

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of patients with reduced respiratory chain enzyme levels	Biochemical studies involving mitochondrial function. The levels will be compared to normal levels.	Up to 2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of new genetic mutations	Evaluation of potential genetic interaction in clinical signs and symptoms.	Up to 2 years

Collaborators and Investigators

• Sponsor: Columbia University
• Collaborators: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); National Institutes of Health (NIH)
• Investigators: Principal Investigator: Michio Hirano, MD, Columbia University

Publications and helpful links

Helpful Links

• Link to general laboratory information

Study record dates

Study Major Dates

• Study Start (Actual): February 1, 2012
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026

Study Registration Dates

• First Submitted: August 31, 2012
• First Submitted That Met QC Criteria: March 1, 2013
• First Posted (Estimated): March 4, 2013

Study Record Updates

• Last Update Posted (Estimated): January 7, 2026
• Last Update Submitted That Met QC Criteria: January 6, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Keywords: mitochondria; mitochondrial disorder; oxidative phosphorylation; oxidative phosphorylation disorders; respiratory chain disorders; mitochondrial disease; melas; kearns sayer; NARP; MNGIE; LHON; Mitochondrial depletion syndrome; Leigh's disease
• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases; Muscular Diseases; Neuromuscular Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Carbohydrate Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Pyruvate Metabolism, Inborn Errors; Cerebral Small Vessel Diseases; Mitochondrial Encephalomyopathies; Mitochondrial Myopathies; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Leigh Disease; Mitochondrial Diseases; MELAS Syndrome
• Other Study ID Numbers: AAAB5754; P01HD032062 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: When applicable we will submit manuscript (s) describing the findings