North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Columbia University
Summary
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
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, diab…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- Yes
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.
Locations (17)
- University of California San DiegoSan Diego, California
- Lucile Packard Children's HospitalStanford, California
- Children's Hospital of ColoradoAurora, Colorado
- Children's National Medical CenterWashington D.C., District of Columbia
- University of FloridaGainsville, Florida
- Massachusetts General HospitalBoston, Massachusetts