Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies
Recruiting
Observational Study
Pyruvate Dehydrogenase Complex Deficiency Disease
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 150 (estimated)
- Sponsor
- University of Pittsburgh · Other
Think this trial could be right for you?
Answer a few quick questions to see if you may meet the eligibility requirements.
Check Your Eligibility
About This Trial
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…
Trial Locations
Loading…
Loading trial locations…
Eligibility Criteria
Inclusion Criteria:
1. 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
2. A known pathogenic mutation of a gene associated with PDC def…
Contacts