NCT03056794 Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies
| NCT ID | NCT03056794 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University of Pittsburgh |
| Condition | Pyruvate Dehydrogenase Complex Deficiency Disease |
| Study Type | OBSERVATIONAL |
| Enrollment | 150 participants |
| Start Date | 2015-09 |
| Primary Completion | 2026-09 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 150 participants in total. It began in 2015-09 with a primary completion date of 2026-09.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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.
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 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). Exclusion Criteria: 1. Another chronic neurological disease (mitochondrial or non-mitochondrial) which is not considered likely to be related to PDC deficiency. 2. Inadequacy of needed blood or tissue sample and unwillingness or inability to submit such a sample. 3. 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.
Contact & Investigator
Jirair K. Bedoyan, MD, PhD
PRINCIPAL INVESTIGATOR
University of Pittsburgh
Frequently Asked Questions
Who can join the NCT03056794 clinical trial?
This trial is open to participants of all sexes, studying Pyruvate Dehydrogenase Complex Deficiency Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT03056794 currently recruiting?
Yes, NCT03056794 is actively recruiting participants. Contact the research team at bedoyanjk@upmc.edu for enrollment information.
Where is the NCT03056794 trial being conducted?
This trial is being conducted at Pittsburgh, United States.
Who is sponsoring the NCT03056794 clinical trial?
NCT03056794 is sponsored by University of Pittsburgh. The principal investigator is Jirair K. Bedoyan, MD, PhD at University of Pittsburgh. The trial plans to enroll 150 participants.