North American Mitochondrial Disease Co… | Clinical Trial

Key information

Conditions

Mitochondrial Disorders Abnormalities, Multiple Acid-Base Imbalance Acidosis Acidosis, Lactic Barth Syndrome Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Cardiomyopathies Cardiovascular Abnormalities Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Chronic Disease Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cranial Nerve Diseases Cytochrome-c Oxidase Deficiency Deafness Deletion and Duplication of Mitochondrial DNA Diabetes Mellitus Disease Disease Attributes Disorder of Mitochondrial Respiratory Chain Complexes Ear Diseases Endocrine System Diseases Epilepsies, Myoclonic Epilepsy Epilepsy, Generalized Epileptic Syndromes Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Genetic Diseases, X-Linked Glucose Metabolism Disorders Hearing Disorders Hearing Loss Heart Defects, Congenital Heart Diseases Heredodegenerative Disorders, Nervous System Kearns-Sayre Syndrome Leigh Disease Leukoencephalopathies Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors MELAS Syndrome MERRF Syndrome Maternally Inherited Leigh Syndrome Metabolic Diseases Metabolism, Inborn Errors Mitochondrial Diseases Mitochondrial Encephalomyopathies Mitochondrial Genetic Disorders Mitochondrial Myopathies Mitochondrial complex I deficiency Muscular Diseases Musculoskeletal Diseases Myoclonic Epilepsies, Progressive Nervous System Diseases Neurodegenerative Diseases Neurologic Manifestations Neuromuscular Diseases Neuropathy ataxia and retinitis pigmentosa Nutritional and Metabolic Diseases Ocular Motility Disorders Ophthalmoplegia Ophthalmoplegia, Chronic Progressive External Optic Atrophies, Hereditary Optic Atrophy Optic Atrophy, Hereditary, Leber Optic Nerve Diseases Otorhinolaryngologic Diseases Paralysis Pathologic Processes Pathological Conditions, Signs and Symptoms Pyruvate Metabolism, Inborn Errors Retinal Degeneration Retinal Diseases Retinal Dystrophies Retinitis Pigmentosa Sensation Disorders Signs and Symptoms Stroke Syndrome Vascular Diseases Visceral myopathy familial external ophthalmoplegia

Sex eligibility

All sexes

Study type

Observational

Primary location

McMaster University, Hamilton, Ontario, Canada

About this study

Mitochondrial diseases comprise a group of relatively rare (~1 in 5000 adults) but very serious genetic disorders. Mitochondria are often called the "powerhouses of the cell" because they provide the energy our cells need to live. Mitochondria have their own DNA (mtDNA), but they also rely on DNA from the nucleus (nDNA). Mitochondrial diseases are caused by mutations in either mitochondrial or nuclear DNA that result in poorly functioning mitochondria. This can cause a variety of symptoms including muscle weakness, seizures, mental retardation, dementia, hearing loss, blindness, strokes, diabetes, and premature death. Most mitochondrial diseases are progressive, and we are unable to cure most of these diseases with currently available treatments.

Research into mitochondrial diseases has been hampered by the low frequency of these disorders and by under-diagnosis by clinicians. This has hindered patient recruitment for research studies and clinical trials. The North American Mitochondrial Disease Consortium (NAMDC) was established to help surmount these issues. Led jointly by Drs. Michio Hirano and Salvatore DiMauro, NAMDC is a consortium of several clinicians and researchers with an interest in mitochondrial disease research in the United States and Canada.

By creating a mechanism for the sharing of patient samples with researchers, data and patient contact information, NAMDC will make it easier to conduct clinical and basic laboratory research.

Patient information will be shared through the use of the "Patient Data Registry," a specially-designed database, and patient tissue samples will be shared through the use of the "Patient Sample Biorepository", a storage facility in which patient-derived biological samples will be maintained. The Registry and the Biorepository will hopefully accelerate progress in the understanding and treatment of mitochondrial disease.

Patients can enroll at any of the NAMDC member sites. A web-based remote enrollment is also available at www.namdc.org for eligible patients who reside far from any of the NAMDC participating sites.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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.

Exclusion criteria

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

Treatment and study plan

Primary outcomes

There is no primary outcome measure for this study

Time frame: end of study

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

Study contacts

Contact information is provided by the study sponsor or research team.

Kristin Engelstad, MS

CONTACT

[email protected]

12123056834

Michio Hirano, MD

CONTACT

[email protected]

12123051048

Sponsors and collaborators

Lead sponsor

Columbia University

Other

Collaborators

National Institute of Neurological Disorders and Stroke (NINDS)

Registry information

Acronym: NAMDC

Important dates

Study start: 2011
Primary completion: 2026
Study completion: 2026
First posted: Sep 27, 2012
Registry last updated: Feb 4, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Enrolling by Invitation