Tissue Sample Study for Mitochondrial Disorders

NCT01803906 | Enrolling By Invitation

• 2 other identifiers: AAAB5754P01HD032062
• Study Type: observational
• Target: 6,900
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Mitochondrial Disease; Melas; Kearns Sayer; NARP; MNGIE; LHON; Mitochondrial Depletion Syndrome; Leigh's Disease; Mitochondrial Disorders

Keywords

mitochondrial disorder; mitochondria; oxidative phosphorylation; oxidative phosphorylation disorders; respiratory chain disorders; mitochondrial disease; melas; kearns sayer; NARP; MNGIE; LHON; Mitochondrial depletion syndrome; Leigh's disease

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Number of new genetic mutations

  Up to 2 years

Study Arms (1)

Mitochondrial disease

Patients with known or suspected DNA mutations that affect mitochondrial function. Patients with suspected mitochondrial disorders

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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).

You may qualify if:

• 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

You may not qualify if:

• Patients who are not suspected of having a mitochondrial disorder

Sponsors & Collaborators

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): collaborator
• Columbia University: lead
• National Institutes of Health (NIH): collaborator

Study Sites (1)

Columbia University

New York, New York, 10032, United States

Location

Related Links

• Link to general laboratory information

Biospecimen

Retention: SAMPLES WITH DNA

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

MeSH Terms

Conditions

Mitochondrial Diseases; MELAS Syndrome; Leigh Disease

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases; Mitochondrial Encephalomyopathies; Mitochondrial Myopathies; Muscular Diseases; Musculoskeletal Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Neuromuscular Diseases; Vascular Diseases; Cardiovascular Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pyruvate Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors

Study Officials

• Michio Hirano, MD

  Columbia University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 31, 2012
• First Posted: March 4, 2013
• Study Start: February 1, 2012
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: January 7, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will share

Locations

US (1)