Who is eligible for clinical trial NCT03056794?

Participants must meet protocol criteria for Pyruvate Dehydrogenase Complex Deficiency Disease. Confirm exact inclusion and exclusion requirements with the study coordinator.

Does clinical trial NCT03056794 provide travel or cost reimbursement?

Check with the site coordinator at the participating facility for travel and lodging stipend availability, and for which routine-care costs are covered.

🏛️ Verified NIH Record • Updated 2026-02-10

Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies (NCT03056794)

🟢 Recruiting Interventional Protocol 📊 Observational Clinical Research Sponsor: University of Pittsburgh

🩺 Plain-English Summary (8th-Grade Level)

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.

Who can join: To join this study, participants generally need to meet the listed inclusion criteria (2 items) and avoid the listed exclusions (4 items).

Location: University of Pittsburgh — Pittsburgh, Pennsylvania

📋 "Do I Qualify?" — 1-Minute Self Screener

Instant Checklist

Check every box below. If you can check all of them, you may meet the study's basic screening requirements (final eligibility is confirmed by the site team).

Low PDC activity in skin fibroblasts, blood lymphocytes or a muscle biopsy, below the reference range, and with valid internal controls to establish sample and assay integrity, and have had PDHA1 testing, and/or
A known pathogenic mutation of a gene associated with PDC deficiency. Relative Subjects Inclusion Criteria: 1\. First or second degree relative of a primary subject for whom genetic testing indicates the presence of variants of unknown significance (VUS).

Usually NOT eligible if any of the following apply:

Exclusion Criteria:
Another chronic neurological disease (mitochondrial or non-mitochondrial) which is not considered likely to be related to PDC deficiency.
Inadequacy of needed blood or tissue sample and unwillingness or inability to submit such a sample.
Unwillingness to participate in the NAMDC Patient Data Registry and Biorepository protocol. Relative Subjects Exclusion Criteria: 1\. Inadequacy of needed blood sample and unwillingness or inability to submit such a sample.

🔍 Extracted verbatim from the official NIH eligibility criteria. Always confirm with the study coordinator.

📍 All Participating Trial Locations (1 Sites)

University of Pittsburgh — Pittsburgh, Pennsylvania

💰 Cost, Insurance & Patient Rights

100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
Voluntary Participation: You may withdraw at any time without affecting your standard medical care.

🏛️ View Official NIH Record ↗