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Study identifier: NCT03056794 Synced from ClinicalTrials.gov · July 29, 2026
● Recruiting

Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies

Condition: Pyruvate Dehydrogenase Complex Deficiency Disease  ·  Sponsor: University of Pittsburgh

PhaseN/A
Planned participants150
Who can joinAll sexes, N/A to no upper limit
Healthy volunteersNo

About this study

Children and adults with pyruvate dehydrogenase complex deficiency (PDCD) are participating in a research study seeking to better understand the genetic causes, symptoms, usefulness of current treatments, and outcomes for these disorders. The research project involves completing a questionnaire about the individual or family's medical history and experiences with PDCD, review of medical records by the researchers, and in some cases, advanced genetic testing.

This description comes directly from the study's public registry record.

Talk to the study team

Jirair K Bedoyan, MD, PhD  ·  412-692-7594  ·  bedoyanjk@upmc.edu

Always discuss trial participation with your own doctor first.

Locations (1)

University of PittsburghPittsburgh, Pennsylvania, United StatesRecruiting

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Source record: clinicaltrials.gov/study/NCT03056794