Mitochondrial Disease Clinical Studies

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Mito Myopathy Rating Scale

The purpose of this research study is to develop a new rating scale to be used in clinical trials (drug or intervention trials) in mitochondrial disease. The aim of the rating scale is to measure symptom changes over short periods of time to determine the efficacy of a drug or other intervention (eg exercise). IRB 16-013364

Pediatric Mito MRI Study

Volunteers are needed for an observational MRI study. We are using a new imaging technique to measure muscle metabolism in individuals with mitochondrial diseases and healthy individuals. To be potentially eligible for the study as a healthy volunteer, we require the following: -Healthy male or female -Between ages 7 to 25, inclusive -Not pregnant -Able to complete a 90-minute MRI scan Volunteers will meet with the principal investigator, Dr. Shana McCormack, MD, and complete a 1-day study visit at CHOP, including blood testing, questionnaires, and an MRI scan. Participants have the potential to earn study compensation. To learn more about the study and determine your eligibility, contact Sara Nguyen at nguyens2@email.chop.edu or (267) 426-7165.

DCA trial in PDC Deficiency

We are studying an investigational drug called sodium dichloroacetate (DCA). Investigational means that the study drug has not been approved by the US Food and Drug Administration (FDA) and that its use in this study is experimental. This a purpose of this research study is to determine whether DCA is a helpful treatment for patient with pyruvate dehydrogenase complex (PDC) deficiency (PDCD).