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Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies

NCT03056794 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 150

Last updated 2026-02-13

No results posted yet for this study

Summary

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.

Conditions

  • Pyruvate Dehydrogenase Complex Deficiency Disease

Interventions

OTHER

No intervention

This is an observational study. The investigators will collect data about exposure to responses to dietary supplements, medications, and the ketogenic diet.

Sponsors & Collaborators

  • Rare Diseases Clinical Research Network

    collaborator NETWORK

  • National Institute of Neurological Disorders and Stroke (NINDS)

    collaborator NIH

  • University of Pittsburgh

    lead OTHER

Principal Investigators

  • Jirair K. Bedoyan, MD, PhD · University of Pittsburgh

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-09-30
Primary Completion
2026-09-30
Completion
2026-09-30

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03056794 on ClinicalTrials.gov