Eye imaging for X-linked disorders
Part of Brain & nervous system, Genetic & congenital clinical trials.
This study uses special eye imaging to look at changes in the brain and eyes of people with creatine transporter deficiency (a condition that affects brain energy) or fragile X syndrome. It aims to find a way to see these brain changes without needing a biopsy or spinal tap.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You must be a male with creatine transporter deficiency (confirmed SLC6A8 mutation) or fragile X syndrome (confirmed FMR1 mutation), or a female with creatine transporter deficiency
- Males must be between 5 and 35 years old; females between 5 and 60 years old
- You need to be a native French speaker
- You or your parent/guardian must sign a consent form and agree to be told about any results found during tests
- You must have French health insurance (sécurité sociale) coverage
- If you are a healthy control, you cannot have any history of learning disabilities or neurological/psychiatric problems
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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