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Through this observational study, researchers will study blood and potentially other stored biological samples from patients with a primary mitochondrial disorder (PMD) with a goal of relating changes in these proteins to patient symptoms.
The study accepts male and female patients, up to age 65, who have a genetically confirmed PMD and are having blood draws through their routine clinical care.
Males and Females: Up to age 65
There are no special requirements. When blood is collected through regular sampling, additional blood will be collected for this study. If enrollees have a skin biopsy, spinal tap or other procedure where fluids or tissue are collected, researchers request a portion of these materials to be sent to the primary investigator for laboratory analysis, including enzyme and subcellular studies.
Visits: Not applicable
Duration: Not applicable
Medical Genetics Research
Amy Goldstein, MD
For more information about the study or enrollment, please contact:
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
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