Study of body differences in creatine transporter deficiency
Part of Brain & nervous system, Hormones & metabolism, Mental health clinical trials.
This study looks at physical and body features in people with creatine transporter deficiency caused by a specific gene change (SLC6A8). It may help doctors better understand the condition and how it shows up, which can improve future care.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You are male and between 2 and 40 years old (including birthdays at 2 and 40).
- A genetic test has confirmed a disease-causing mutation in the SLC6A8 gene.
- You can likely take part in all required study activities despite your health condition.
- A parent/guardian/caregiver can sign the consent form, and you can agree if the study asks for your assent.
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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