New hope for rare metabolic disorder: can a repurposed drug ease debilitating fatigue?

NCT ID NCT06887777

Summary

This study is testing if a drug called Ravicti can help control symptoms of a rare genetic disorder called pyruvate dehydrogenase deficiency (PDH). It will involve about 15 children and young adults (ages 2-25) with specific genetic forms of PDH. The main goal is to see if taking Ravicti for 6 months reduces severe fatigue and improves daily functioning and quality of life.

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Contacts and locations

Study contacts

  • Contact

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

  • Contact

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

Locations

  • Hôpital Universitaire Necker - Enfants Malades

    RECRUITING

    Paris, France, 75015, France

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

Conditions

Explore the condition pages connected to this study.