Researchers launch major study to unravel rare metabolic disorder
NCT ID NCT03056794
First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study is collecting information from children and adults with pyruvate dehydrogenase complex deficiency (PDCD), a rare genetic disorder that affects energy production in cells. Researchers will review medical records, ask participants about their health history, and perform advanced genetic testing in some cases. The goal is to better understand the disease's causes, symptoms, and outcomes, which could help guide future treatments.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- What this could lead to
- If successful, this study could provide a clearer picture of how pyruvate dehydrogenase deficiency progresses and what treatments might help.
- What could go wrong
- This is an observational study, not a treatment trial, so it won't directly test new therapies. Results may take years and might not lead to immediate changes in care.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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University of Pittsburgh
RECRUITINGPittsburgh, Pennsylvania, 15260, United States
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