Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies

Conditions

• Pyruvate Dehydrogenase Complex Deficiency Disease

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Not accepted

Interventions

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

Study Details

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.

Key Dates

Start date

Sep 30, 2015

Status verified

Feb 2026

Primary completion

Sep 30, 2026

Completion

Sep 30, 2026

Study Design

Enrollment

150 participants (estimated)

Arms

• Arm: PDC Deficiency
  Pyruvate Dehydrogenase Complex Deficiency Disease

Primary Outcome Measure

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. ]

Central Contacts

• Jirair K Bedoyan, MD, PhD
  412-692-7594
  [email protected]

Locations (1)

Find similar trials in Pittsburgh, PA

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