NCT03056794 · University of Pittsburgh
Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies
What this study is about
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.
View original scientific description
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.
Interventions
OTHER
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 measures
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.
Survival will be measured in years and months.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- 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
- 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
- Another chronic neurological disease (mitochondrial or non-mitochondrial) which is not considered likely to be related to PDC deficiency.
- Inadequacy of needed blood or tissue sample and unwillingness or inability to submit such a sample.
- 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
- Pittsburgh, Pennsylvania
Collaborators
Rare Diseases Clinical Research Network, National Institute of Neurological Disorders and Stroke (NINDS)
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Feb 13, 2026 · Source of record for eligibility and locations