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

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

Detailed Description
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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.

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

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

Participation Criteria
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Eligibility Criteria
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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.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Mitochondrial Disease Patients<br>Patients with possible or known mitochondrial disorders. Patients who are known carriers of mitochondrial or nuclear DNA mutations involved in mitochondrial function. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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DAD, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) Syndrome, mitochondrial disorders, Mito Disease, Mitochondria, Mitochondrial disease, 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), 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