North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

NCT01694940 | Recruiting

• 2 other identifiers: AAAF4597U54NS078059
• Study Type: observational
• Target: 1,000
• Locations: 2 countries
• Sites: 17

Brief Summary

The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.

Conditions

Mitochondrial Disorders; Mitochondrial Diseases; Disorder of Mitochondrial Respiratory Chain Complexes; Deletion and Duplication of Mitochondrial DNA; Mitochondrial Genetic Disorders

Keywords

mitochondrial disorders; Mito Disease; Mitochondria; Mitochondrial disease; Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) Syndrome; Myoclonic Epilepsy with Ragged Red Fibers (MERRF); Leber Hereditary Optic Neuropathy (LHON); Leigh Syndrome; Neuropathy, ataxia, and retinitis pigmentosa (NARP); Kearns Sayre syndrome; Alpers Huttenlocher; Pearson; Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE); Barth Syndrome; Coenzyme Q (CoQ) Deficiency; Chronic progressive external ophthalmoplegia (CPEO); DAD; Diabetes and Deafness; Encephalopathy; Encephalomyopathy; Familial Bilateral Striatal Necrosis (FBSN); Hepatocerebral Disease; Leukoencephalopathy; Maternally Inherited Leigh Syndrome (MILS); Complex I Deficiency; Complex II Deficiency; Complex III Deficiency; Complex IV Deficiency; Complex V Deficiency; mitochondrial DNA depletion syndrome; mtDNA depletion syndrome

Outcome Measures

Primary Outcomes (1)

• There is no primary outcome measure for this study

  This is a registry protocol and therefore there is no primary outcome measure for this study.

  end of study

Study Arms (1)

Mitochondrial Disease Patients

Patients with possible or known mitochondrial disorders. Patients who are known carriers of mitochondrial or nuclear DNA mutations involved in mitochondrial function.

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 with known mitochondrial disorders. People at risk of carrying a mitochondrial DNA mutation Patients with abnormal mitochondrial function

You may qualify if:

• Patients diagnosed with or suspected to have a mitochondrial disorder
• Adult carriers of known mitochondrial DNA mutations
• Patients with laboratory analysis indicative of a mitochondrial disorder.
• Medical information and tissue samples are also accepted from deceased individuals who fulfill the above criteria.

You may not qualify if:

• Patients not suspected of having a mitochondrial disorder
• Patients not suspected of carrying a mitochondrial DNA or nuclear DNA mutation that affects mitochondrial function.

Sponsors & Collaborators

• Columbia University: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator

Study Sites (17)

University of California San Diego

San Diego, California, 92103, United States

RECRUITING

Lucile Packard Children's Hospital

Stanford, California, 94305, United States

RECRUITING

Children's Hospital of Colorado

Aurora, Colorado, 80045, United States

RECRUITING

Children's National Medical Center

Washington D.C., District of Columbia, 20010, United States

RECRUITING

University of Florida

Gainsville, Florida, 32610, United States

RECRUITING

Massachusetts General Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Mayo Clinic

Rochester, Minnesota, 55902, United States

RECRUITING

Columbia University Medical Center

New York, New York, 10032, United States

RECRUITING

Virtual Site (Remote enrollment)

New York, New York, 10032, United States

RECRUITING

Akron Children's Hospital

Akron, Ohio, 44308, United States

RECRUITING

Cleveland Clinic

Cleveland, Ohio, 44195, United States

RECRUITING

Case Western Reserve University

Clevland, Ohio, 44106, United States

RECRUITING

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, 15224, United States

RECRUITING

Baylor College of Medicine

Houston, Texas, 77030, United States

RECRUITING

Seattle Children's Hospital and Regional Medical Center

Seattle, Washington, 98105, United States

RECRUITING

McMaster University

Hamilton, Ontario, ON L8N 3Z5, Canada

RECRUITING

Related Links

• Rare Disease Clinical Research Network NAMDC Home Page

Biospecimen

Retention: SAMPLES WITH DNA

Any type of tissue sample can be stored in the biorepository.

MeSH Terms

Conditions

Mitochondrial Diseases; Mitochondrial Myopathies; Brain Diseases; Acidosis, Lactic; Stroke; MELAS Syndrome; Syndrome; MERRF Syndrome; Optic Atrophy, Hereditary, Leber; Leigh Disease; Neuropathy ataxia and retinitis pigmentosa; Kearns-Sayre Syndrome; Visceral myopathy familial external ophthalmoplegia; Barth Syndrome; Ophthalmoplegia, Chronic Progressive External; Diabetes Mellitus; Deafness; Leukoencephalopathies; Maternally Inherited Leigh Syndrome; Mitochondrial complex I deficiency; Cytochrome-c Oxidase Deficiency

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Central Nervous System Diseases; Acidosis; Acid-Base Imbalance; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Mitochondrial Encephalomyopathies; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Cerebral Small Vessel Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Disease; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Myoclonic Epilepsies, Progressive; Epilepsies, Myoclonic; Epilepsy, Generalized; Epilepsy; Epileptic Syndromes; Optic Atrophies, Hereditary; Optic Atrophy; Optic Nerve Diseases; Cranial Nerve Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Eye Diseases, Hereditary; Eye Diseases; Pyruvate Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Ophthalmoplegia; Ocular Motility Disorders; Paralysis; Neurologic Manifestations; Retinitis Pigmentosa; Retinal Dystrophies; Retinal Degeneration; Retinal Diseases; Cardiomyopathies; Heart Diseases; Chronic Disease; Disease Attributes; Signs and Symptoms; Heart Defects, Congenital; Cardiovascular Abnormalities; Abnormalities, Multiple; Congenital Abnormalities; Genetic Diseases, X-Linked; Lipid Metabolism, Inborn Errors; Lipid Metabolism Disorders; Glucose Metabolism Disorders; Endocrine System Diseases; Hearing Loss; Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Sensation Disorders

Study Officials

• Michio Hirano, MD

  Columbia University

  STUDY DIRECTOR

Central Study Contacts

Michio Hirano, MD

CONTACT

12123051048; NAMDC@columbia.edu

Kristin Engelstad, MS

CONTACT

12123056834; NAMDC@columbia.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Neurology

Study Record Dates

• First Submitted: September 25, 2012
• First Posted: September 27, 2012
• Study Start: January 31, 2011
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: February 4, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will share

Locations

US (16); CA (1)