Hope for rare metabolic disorder: new drug targets fatigue in PDH deficiency
NCT ID NCT06887777
First seen Jan 27, 2026 · Last updated Jun 18, 2026 · Updated 21 times
Summary
This study tests whether a drug called glycerol phenylbutyrate (RAVICTI®) can reduce fatigue and improve daily life for people with pyruvate dehydrogenase (PDH) deficiency, a rare genetic condition that affects energy production. About 15 children and young adults (ages 2 to 25) will take the drug for 6 months while continuing their usual treatments like vitamin B1 and a special diet. Researchers will measure changes in fatigue, overall function, and quality of life.
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Hôpital Universitaire Necker - Enfants Malades
RECRUITINGParis, France, 75015, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
Conditions
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