Actively Recruiting
Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies
Led by University of Pittsburgh · Updated on 2026-02-13
150
Participants Needed
1
Research Sites
574 weeks
Total Duration
On this page
Sponsors
U
University of Pittsburgh
Lead Sponsor
R
Rare Diseases Clinical Research Network
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
Official Title
Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Low pyruvate dehydrogenase complex activity in skin fibroblasts, blood lymphocytes, or muscle biopsy, with valid controls and prior PDHA1 testing
- Known pathogenic mutation in a gene linked to PDCD
- First or second degree relative of a participant with genetic variants of unknown significance (VUS)
You will not qualify if you...
- Presence of another chronic neurological disease not likely related to PDCD
- Inability or refusal to provide required blood or tissue samples
- Unwillingness to participate in the NAMDC Patient Data Registry and Biorepository protocol
- For relatives, inability or refusal to provide required blood samples
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
University of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15260
Actively Recruiting
Research Team
J
Jirair K Bedoyan, MD, PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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