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Through this multi-center study, which is also known as SPIMM-300, researchers will study the relationship between patients’ genetic test results and the signs and symptoms of primary mitochondrial disease (PMD). As genes are the instructions for how the body functions and how proteins are made, abnormalities or variants in the genes can lead to proteins that do not work correctly and can cause disease. Learning more about how these variants relate to PMD symptoms may help in developing future treatments. Regional differences in the genetic test methods and in the standard clinical care of PMD patients will also be examined. Additionally, this study may help researchers identify potential patients for future clinical trials of investigational drugs to treat PMD.
Subject to certain exclusion criteria, the study accepts male and female patients, ages 16 to 65, with a clinical presentation of PMD and signs or symptoms suggestive of myopathy.
Males and Females: Ages 16 to 65
The only visit required for this study is the initial enrollment visit, at which time the participant will be given a physical examination and answer questions related to this study. Medical history information will also be collected and entered into the study database. Participants will continue with their normal clinical care for PMD and information about their continued health, treatments for PMD, and responses will be added to the study database over time.
Study Description at National Institutes of Health
Medical Genetics Research
Gerard Vockley, MD, PhD
For more information about the study or enrollment, please contact:
Sandra Braden, RN
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.