Recruiting

Genetic Study

Sponsor:

University of Pittsburgh

Code:

NCT03056794

Conditions

Pyruvate Dehydrogenase Complex Deficiency Disease

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

No intervention

Study Details

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.

Conditions

Pyruvate Dehydrogenase Complex Deficiency Disease

Study ID

NCT03056794

Start date

Sep, 2015

Status verified date

Oct, 2026

Completion date

Dec, 2030

Anticipated

Primary completion date

Sep, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

150 participants

Anticipated

Interventions and Outcome Measures

Arms

PDC Deficiency

Pyruvate Dehydrogenase Complex Deficiency Disease

Interventions

No intervention

This is an observational study. The investigators will collect data about exposure to responses to dietary supplements, medications, and the ketogenic diet.

Primary outcome measure

  • Survival outcomes in pyruvate dehydrogenase deficiency disease [ Time Frame: Data will be collected about duration of survival from birth until the last date known to be living at the time of data analysis. ]

Central Contacts and Locations

Central contacts

Jirair K Bedoyan, MD, PhD

412-692-7594bedoyanjk@upmc.edu

Locations

University of Pittsburgh

Recruiting

Pittsburgh, Pennsylvania, United States, 15260

Principal Investigator:

Jirair K. Bedoyan, MD

More Information

Sponsor

University of Pittsburgh

Last update posted

Oct 5, 2026

Last verified

Oct, 2026

Keywords

  • pyruvate
  • pyruvate dehydrogenase
  • PDC
  • PDCD

Trial information was received from ClinicalTrials.gov and was last updated on 2026-10-24. This information was provided to ClinicalTrials.gov by University of Pittsburgh on 2026-10-05. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.