New hope for rare metabolic disorder: drug aims to ease fatigue and improve lives

NCT ID NCT06887777

Recruiting now Disease control Sponsor: Assistance Publique - Hôpitaux de Paris Source: ClinicalTrials.gov ↗

First seen Jan 27, 2026 · Last updated Apr 25, 2026 · Updated 14 times

Summary

This study tests whether a medicine called glycerol phenylbutyrate (RAVICTI®) can help reduce fatigue and improve daily functioning in people with pyruvate dehydrogenase (PDH) deficiency, a rare genetic condition that affects energy production. About 15 children and adults aged 2 to 25 will take the drug for 6 months while continuing their usual treatments. Researchers will measure changes in fatigue, quality of life, and other health markers.

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Contacts and locations

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Study contacts

Contact

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

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

Locations

Hôpital Universitaire Necker - Enfants Malades
RECRUITING

Paris, France, 75015, France

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

Conditions

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PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE