Natural History and Advanced Genetic Study 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)
University of Pittsburgh
150 participants
Sep 1, 2015
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria3
- 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.
- \. First or second degree relative of a primary subject for whom genetic testing indicates the presence of variants of unknown significance (VUS).
Exclusion Criteria4
- 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.
- \. Inadequacy of needed blood sample and unwillingness or inability to submit such a sample.
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Interventions
This is an observational study. The investigators will collect data about exposure to responses to dietary supplements, medications, and the ketogenic diet.
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT03056794