Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies

ConditionPyruvate Dehydrogenase Complex Deficiency Disease

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

This trial does not accept healthy volunteers

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 population

Children and adults with pyruvate dehydrogenase complex deficiency

Trial design

Design model

Cohort

Time perspective

Other

Treatments tested in this trial

No intervention
Other intervention
This is an observational study. The investigators will collect data about exposure to responses to dietary supplements, medications, and the ketogenic diet.

Treatment groups

150 Participants

are divided into 1 treatment group

Group A: PDC Deficiency1 intervention

Trial outcomes

Primary outcomes

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.

Secondary outcomes

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.

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

University of Pittsburgh

Lead sponsor

Rare Diseases Clinical Research Network

Collaborator

National Institute of Neurological Disorders and Stroke (NINDS)