North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) (NAMDC)
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| ClinicalTrials.gov Identifier: NCT01694940 |
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Recruitment Status :
Recruiting
First Posted : September 27, 2012
Last Update Posted : August 1, 2022
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| Tracking Information | |||||||||
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| First Submitted Date | September 25, 2012 | ||||||||
| First Posted Date | September 27, 2012 | ||||||||
| Last Update Posted Date | August 1, 2022 | ||||||||
| Actual Study Start Date | December 2010 | ||||||||
| Estimated Primary Completion Date | December 2025 (Final data collection date for primary outcome measure) | ||||||||
| Current Primary Outcome Measures |
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.
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| Original Primary Outcome Measures | Not Provided | ||||||||
| Change History | |||||||||
| Current Secondary Outcome Measures | Not Provided | ||||||||
| Original Secondary Outcome Measures | Not Provided | ||||||||
| Current Other Pre-specified Outcome Measures | Not Provided | ||||||||
| Original Other Pre-specified Outcome Measures | Not Provided | ||||||||
| Descriptive Information | |||||||||
| Brief Title | North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) | ||||||||
| Official Title | North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) | ||||||||
| Brief Summary | The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders. | ||||||||
| 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 | ||||||||
| Study Design | Observational Model: Cohort Time Perspective: Prospective |
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| Target Follow-Up Duration | Not Provided | ||||||||
| Biospecimen | Retention: Samples With DNA Description: Any type of tissue sample can be stored in the biorepository.
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| 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 | ||||||||
| Condition |
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| Intervention | Not Provided | ||||||||
| Study Groups/Cohorts | 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.
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| Publications * | Not Provided | ||||||||
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* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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| Recruitment Information | |||||||||
| Recruitment Status | Recruiting | ||||||||
| Estimated Enrollment |
1000 | ||||||||
| Original Estimated Enrollment | Same as current | ||||||||
| Estimated Study Completion Date | December 2025 | ||||||||
| Estimated Primary Completion Date | December 2025 (Final data collection date for primary outcome measure) | ||||||||
| Eligibility Criteria | Inclusion Criteria:
Exclusion Criteria:
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| Sex/Gender |
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| Ages | Child, Adult, Older Adult | ||||||||
| Accepts Healthy Volunteers | Yes | ||||||||
| Contacts |
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| Listed Location Countries | Canada, United States | ||||||||
| Removed Location Countries | |||||||||
| Administrative Information | |||||||||
| NCT Number | NCT01694940 | ||||||||
| Other Study ID Numbers | AAAF4597 U54NS078059 ( U.S. NIH Grant/Contract ) |
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| Has Data Monitoring Committee | No | ||||||||
| U.S. FDA-regulated Product | Not Provided | ||||||||
| IPD Sharing Statement |
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| Current Responsible Party | Michio Hirano, MD, Columbia University | ||||||||
| Original Responsible Party | Michio Hirano, Columbia University, Professor of Neurology | ||||||||
| Current Study Sponsor | Columbia University | ||||||||
| Original Study Sponsor | Same as current | ||||||||
| Collaborators | National Institute of Neurological Disorders and Stroke (NINDS) | ||||||||
| Investigators |
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| PRS Account | Columbia University | ||||||||
| Verification Date | July 2022 | ||||||||