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The NAMDC Patient Registry and Bioregistry is a collection of patients with suspected or confirmed mitochondrial disease. Mitochondrial diseases comprise a group of relatively rare but very serious genetic disorders. Mitochondria are often called the "powerhouses of the cell" because they provide the energy our cells need to live. Mitochondrial diseases result in poorly functioning mitochondria, and can cause a variety of symptoms including muscle weakness, seizures, mental retardation, dementia, hearing loss, blindness, strokes, diabetes, and premature death. Research into mitochondrial diseases has been hampered by the low frequency of these disorders and by underdiagnosis by clinicians. This has hindered patient recruitment for research studies and clinical trials. By creating a mechanism for the sharing of patient data and patient contact information, and tissue samples, NAMDC will make it easier to conduct clinical and basic laboratory research and further our understanding of mitochondrial disease.
For more information: http://rarediseasesnetwork.epi.usf.edu/NAMDC/index.htm
Patients of all ages who have or are suspected to have mitochondrial disease are invited to participate. Deceased patients with mitochondrial disease are also eligible.
Boys: All ages
Girls: All ages
With parent/guardian consent, all past, current and future medical records pertaining to their child will become part of the registry. If you participate in the optional biorepository, no new specimens will be collected other than what your doctor requires for your care. In some cases, you may be asked to give a DNA sample through saliva or cheek cells.
Visits: Not applicable
Duration: Not applicable
Jerry Vockley, MD, PhD
Danielle Black, 412-692-6893
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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For questions about a hospital bill call:
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Interested in giving to Children's Hospital? Visit Children's Hospital of Pittsburgh Foundation's website to make a donation online.