Understanding genetic causes of pyruvate dehydrogenase complex deficiencies

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.