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Researchers launch study to unravel rare metabolic disorder

NCT ID NCT03056794

Recruiting now Knowledge-focused Sponsor: University of Pittsburgh Source: ClinicalTrials.gov ↗

First seen Nov 01, 2025 · Last updated Jun 21, 2026 · Updated 32 times

Summary

This study is observing children and adults with pyruvate dehydrogenase complex deficiency (PDCD), a rare genetic disorder that affects energy production in cells. Researchers will collect medical history, questionnaire responses, and genetic data from 150 participants to better understand the disease's causes, symptoms, and outcomes. No new treatments are being tested; the goal is to gather knowledge that could guide future research.

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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • University of Pittsburgh

    RECRUITING

    Pittsburgh, Pennsylvania, 15260, United States

    Contact

Conditions

The condition(s) this trial relates to.

Pyruvate Dehydrogenase Complex Deficiency Disease pyruvate dehydrogenase deficiency pyruvate dehydrogenase E1-alpha deficiency

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE