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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:
Children’s Hospital of Pittsburgh of UPMC
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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Interested in giving to Children's Hospital? Visit Children's Hospital of Pittsburgh Foundation's website to make a donation online.