Measuring outcomes for creatine transporter deficiency
Treatments studied
Part of Brain & nervous system, Genetic & congenital clinical trials.
This study aims to find the best ways to measure how creatine transporter deficiency (CTD) affects people. It includes both males and females with CTD, as well as healthy volunteers, to compare results and develop better tests.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You or your child must have a confirmed mutation in the SLC6A8 gene (for CTD group) or be a healthy volunteer without a neurological or psychiatric condition.
- Age: Males with CTD and healthy male volunteers must be between 6 and 34 years old; females with CTD and healthy female volunteers must be between 6 and 59 years old; younger healthy children must be between 3 and 7 years old.
- You must speak French as your native language.
- You (or your parents/guardian) must sign a consent form to participate.
- You must be covered by the French national health insurance (sécurité sociale) or have parents/guardian who are covered.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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