Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorUniversity of Pittsburgh
About this trial
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 criteria
Qualifiers
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.
Disqualifiers
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.
Trial design
Treatments tested in this trial
- No intervention
Treatment groups
150 Participants
are divided into 1 treatment groupSponsors and collaborators
University of Pittsburgh
Lead sponsor
Rare Diseases Clinical Research Network
Collaborator
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator
Source ClinicalTrials.gov