Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies (NCT03056794)
Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies (North American Mitochondrial Disease Consortium, Rare Diseases Clinical Research Network, Project 7413)
🩺 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: Review the eligibility criteria below.
Location: University of Pittsburgh — Pittsburgh, Pennsylvania
🧪 Interventions in This Study
- No intervention (OTHER)
📋 "Do I Qualify?" — 1-Minute Self Screener
Instant ChecklistFull eligibility criteria are available on the official NIH protocol. View the criteria ↗
📍 All Participating Trial Locations (1 Sites)
- University of Pittsburgh — Pittsburgh, Pennsylvania
📞 Contact the Study Coordinator
Phone: (412) 692-7594
Email: bedoyanjk@upmc.edu
Coordinator details come directly from the registered NIH protocol. Confirm the study is still recruiting before traveling.
💰 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.
Explore by condition: All Pyruvate Dehydrogenase Complex Deficiency Disease clinical trials
💡 How to Participate
- Check the checklist above to see if you may qualify.
- Contact the study coordinator using the phone/email above.
- Ask about the visit schedule, what is covered at no cost, and any travel support.
- Confirm with your own doctor before making a decision.