An observational study in Pyruvate Dehydrogenase Complex Deficiency Disease, sponsored by University of Pittsburgh. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2026-10-05.
Sponsored by University of Pittsburgh · Observational
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.
Pyruvate dehydrogenase complex deficiencies (PDCDs) are a major class of mitochondrial diseases, limiting oxidation of carbohydrate for energy production, which is especially important in the brain. So far, there is not a definitive treatment for these disorders. This study, "Advanced Genetic Study and Pilot Newborn Screening for Disorders of Pyruvate Metabolism," will continue with the created database with information that is collected over a long period of time about patients with PDCDs. This database is part of the existing North American Mitochondrial Disease Consortium (NAMDC) Patient Data Registry and Biorepository database. The study will collect data specific to PDC deficiencies, including data that is derived from patients/families. Approximately 75 subjects with confirmed PDCD will be enrolled over 5 years. The genetic basis and pathophysiology will be explored in up to a third of confirmed PDC deficient patients, who currently have not been found to have an identified mutation in DLD or any of the five "primary" PDC-specific genes (PDHA1, PDHB, DLAT, PDHX, and PDP1), and who might benefit from different treatments.
The specific aims of the study are:
About this Study:
This study will collect comprehensive longitudinal natural history clinical data for proven Pyruvate Dehydrogenase Complex deficiencies (PDCDs), including data about diagnoses, symptoms, and outcomes. The study will include data from patients/parents as well as medical data. The investigators will use medical records and a short questionnaire targeted to collect information about critical outcomes. This questionnaire will collect information from the subject and parent about the importance of different outcomes and allow families to discuss other outcomes that they may consider important at home. Additional details of treatment will be sought to maximize our knowledge about their effects and serve to inform future clinical trials.
Data Dictionary: On file at Data Monitoring Core Council in Cincinnati Children's Hospital Medical Center and has been provided to investigators at University Hospitals Cleveland Medical Center.
University of Pittsburgh is the lead sponsor of 1,385 studies on the registry; 167 are open to participants now.
Of its 8 completed or terminated interventional studies of FDA-regulated products, 4 (50%) have results posted.
Counted across the registry records on this site, refreshed daily.
Children and adults with pyruvate dehydrogenase complex 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:
Relative Subjects Exclusion Criteria:
1. Inadequacy of needed blood sample and unwillingness or inability to submit such a sample.
Pyruvate Dehydrogenase Complex Deficiency Disease
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.
Survival outcomes in pyruvate dehydrogenase deficiency disease
Survival will be measured in years and months.
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.
Neurological outcomes in pyruvate dehydrogenase deficiency disease
The number of participants with each neurological outcome will be assessed by analyzing questionnaire and medical record data. Neurological outcomes include, but are not limited to, developmental delay/intellectual disability, seizures, muscle weakness and abnormalities of tone, ataxia, neuropathy, dysautonomia, involuntary movements, microcephaly, hearing loss, and ophthalmologic abnormalities/ vision impairment.
Time frame: Through a participant questionnaire and retrospective review of medical records, neurological outcomes will be assessed for the entire lifetime of the participant up to the time of data collection.
Plan to share: Yes — Data to be submitted to dbGap, as well as NAMDC researchers and the RDCRN.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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Pyruvate Dehydrogenase Complex Deficiency Disease
University of Pittsburgh