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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT01694940
Recruitment Status : Recruiting
First Posted : September 27, 2012
Last Update Posted : August 1, 2022
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Michio Hirano, MD, Columbia University

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

Condition or disease
Mitochondrial Disorders Mitochondrial Genetic Disorders Mitochondrial Diseases Disorder of Mitochondrial Respiratory Chain Complexes Deletion and Duplication of Mitochondrial DNA

Detailed Description:

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.

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Actual Study Start Date : December 2010
Estimated Primary Completion Date : December 2025
Estimated Study Completion Date : December 2025

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.

Primary Outcome Measures :
  1. 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.

Biospecimen Retention:   Samples With DNA
Any type of tissue sample can be stored in the biorepository.

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01694940

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Contact: Michio Hirano, MD 12123051048 NAMDC@columbia.edu
Contact: Kristin Engelstad, MS 12123056834 NAMDC@columbia.edu

Show Show 17 study locations
Sponsors and Collaborators
Columbia University
National Institute of Neurological Disorders and Stroke (NINDS)
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Study Director: Michio Hirano, MD Columbia University
Additional Information:
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Responsible Party: Michio Hirano, MD, Professor of Neurology, Columbia University
ClinicalTrials.gov Identifier: NCT01694940    
Other Study ID Numbers: AAAF4597
U54NS078059 ( U.S. NIH Grant/Contract )
First Posted: September 27, 2012    Key Record Dates
Last Update Posted: August 1, 2022
Last Verified: July 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Anonymized participant data is available upon request and approval by the NAMDC Data Use Committee.
Keywords provided by Michio Hirano, MD, Columbia University:
mitochondrial disorders
Mito Disease
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
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE)
Barth Syndrome
Coenzyme Q (CoQ) Deficiency
Chronic progressive external ophthalmoplegia (CPEO)
Diabetes and Deafness
Familial Bilateral Striatal Necrosis (FBSN)
Hepatocerebral Disease
Maternally Inherited Leigh Syndrome (MILS)
Complex I Deficiency
Complex II Deficiency
Complex III Deficiency
Complex IV Deficiency
Complex V Deficiency
mitochondrial DNA depletion syndrome
Additional relevant MeSH terms:
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Genetic Diseases, Inborn
Mitochondrial Diseases
Pathologic Processes
Metabolic Diseases