North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) (NAMDC)
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|ClinicalTrials.gov Identifier: NCT01694940|
Recruitment Status : Recruiting
First Posted : September 27, 2012
Last Update Posted : August 1, 2022
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|Condition or disease|
|Mitochondrial Disorders Mitochondrial Genetic Disorders Mitochondrial Diseases Disorder of Mitochondrial Respiratory Chain Complexes Deletion and Duplication of Mitochondrial DNA|
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.
|Study Type :||Observational|
|Estimated Enrollment :||1000 participants|
|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.
- 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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
|Ages Eligible for Study:||Child, Adult, Older Adult|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||Yes|
|Sampling Method:||Non-Probability Sample|
- 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.
- Patients not suspected of having a mitochondrial disorder
- Patients not suspected of carrying a mitochondrial DNA or nuclear DNA mutation that affects mitochondrial function.
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
|Contact: Michio Hirano, MD||12123051048||NAMDC@columbia.edu|
|Contact: Kristin Engelstad, MS||12123056834||NAMDC@columbia.edu|
|Study Director:||Michio Hirano, MD||Columbia University|
|Responsible Party:||Michio Hirano, MD, Professor of Neurology, Columbia University|
|Other Study ID Numbers:||
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.|
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) Syndrome
Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
Leber Hereditary Optic Neuropathy (LHON)
Neuropathy, ataxia, and retinitis pigmentosa (NARP)
Kearns Sayre syndrome
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE)
Coenzyme Q (CoQ) Deficiency
Chronic progressive external ophthalmoplegia (CPEO)
Diabetes and Deafness
Familial Bilateral Striatal Necrosis (FBSN)
Maternally Inherited Leigh Syndrome (MILS)
Complex I Deficiency
Complex II Deficiency
Complex III Deficiency
Complex IV Deficiency
Complex V Deficiency
mitochondrial DNA depletion syndrome
Genetic Diseases, Inborn