Mitochondrial Medicine Clinical Studies

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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).

Mitochondrial Myopathy Rating Scale

The purpose of this research study is to 1) validate the use of surveys such as fatiguescales, Mitochondrial Disease scales, and quality of life scales, 2) validate clinicalexams, such as muscle strength tests, and the 6 minute walk test, and 3) to define thenatural history of the disease in the Mitochondrial Disease patient population.

MELAS Study

The purpose of this research is to investigate study drug IW-6463 in patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS). IW-6463 is not approved by the U.S. Food and Drug Administration for any use.

The study period will last for approximately 75 days and will include at least 3 to 6 on-site visits at the Children’s Hospital of Philadelphia (CHOP), where participants will be provided the study drug and monitored for safety.

For more information, please contact Sara Nguyen at nguyens2@email.chop.edu

REN001 for Adults with Primary Mitochondrial Myopathy

The purpose of this new clinical trial is to investigate study drug “REN001” in adult patients with Primary Mitochondrial Myopathy.  REN001 is currently not approved by the U.S. Food and Drug Administration nor any other regulatory agencies for this disease; it is considered an experimental drug.

The study period will last for approximately 9 months and will include at least 4 outpatient visits at CHOP, where participants will be provided the study drug or placebo and monitored for safety.  The study also involves blood and urine tests, cardiac tests, physical exercise tests, and other study procedures.  For more information: https://www.clinicaltrials.gov/ct2/show/NCT04535609

Participants will be able to receive travel support and reimbursement for related expenses.