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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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 Summary:

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 Regist
Sponsor: Columbia University

Current Primary Outcome: There is no primary outcome measure for this study [ Time Frame: end of study ]

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Columbia University

Dates:
Date Received: September 25, 2012
Date Started: December 2010
Date Completion: December 2025
Last Updated: January 30, 2017
Last Verified: January 2017