Scientists search for a yardstick to measure a devastating rare disease
NCT ID NCT06018519
Summary
This study aims to prepare for future treatment trials for Creatine Transporter Deficiency (CTD), a rare genetic disorder that causes severe intellectual disability, seizures, and movement problems. Researchers will test many different questionnaires, games, and tasks on about 200 participants, including patients and healthy volunteers, to find the best ways to measure symptoms in people with significant cognitive challenges. The goal is to identify reliable tools that can detect if a future medicine is working, since standard tests often fail for these patients.
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Contacts and locations
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Woman, mother and child hospital, Hospices Civils de Lyon
RECRUITINGBron, 69500, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact
Conditions
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