Understanding genetic causes of pyruvate dehydrogenase complex deficiencies
Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies (North American Mitochondrial Disease Consortium, Rare Diseases Clinical Research Network, Project 7413)
This study is trying to find out the genetic causes of pyruvate dehydrogenase complex deficiency by gathering information from people with the condition to help improve understanding and treatment options.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 150 (estimated) |
| Sex | All |
| Sponsor | University of Pittsburgh Academic / other |
| Locations | 1 site (Pittsburgh, Pennsylvania) |
| Trial ID | NCT03056794 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on individuals with pyruvate dehydrogenase complex deficiency (PDCD) to explore the genetic underpinnings, symptoms, and treatment outcomes associated with this condition. Participants will complete questionnaires about their medical history and experiences, and researchers will review medical records and may conduct advanced genetic testing. The study aims to enhance a database within the North American Mitochondrial Disease Consortium, collecting data over five years from approximately 75 confirmed PDCD patients. The research seeks to identify genetic mutations in patients who currently lack a known mutation in key PDC-related genes.
Who should consider this trial
Good fit: Ideal candidates include individuals with confirmed pyruvate dehydrogenase complex deficiency and their first or second degree relatives.
Not a fit: Patients with another chronic neurological disease unrelated to PDC deficiency may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and potential new treatment options for patients with pyruvate dehydrogenase complex deficiencies.
How similar studies have performed: While there have been studies on mitochondrial diseases, this specific approach focusing on PDCD and advanced genetic analysis is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Pittsburgh, Pennsylvania
- University of Pittsburgh — Pittsburgh, Pennsylvania, United States (Recruiting)
Study contacts
- Principal investigator: Jirair K. Bedoyan, MD, PhD — University of Pittsburgh
- Study coordinator: Jirair K Bedoyan, MD, PhD
- Email: bedoyanjk@upmc.edu
- Phone: 412-692-7594
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.