💬In plain words
What the trial is, and whether it could suit you
Fragile X syndrome (FXS, OMIM #300624) and Creatine Transporter Deficiency (CTD, #300352) are the two most common causes of X-linked intellectual disability. FXS and CTD affect hemizygous males and with highly variable severity heterozygous females. Both these neurodevelopmental disorders (NDDs) have a dramatic impact on the family quality of life and the health-care system. These disorders share common clinical traits, including intellectual disability, autistic-like features, behavioural and mood alterations and seizures. Brain anatomy appears largely normal, suggesting that functional deficits result from subtle changes in synaptic connectivity. Moreover, common physiological mechanisms related to brain energetics might concur to the pathophysiology of FXS and CTD. Indeed, FMR1 and SLC6A8 are directly involved in the regulation of metabolism and the loss-of-function of both genes lead
Sign in to get the eligibility rules as simple questions to take to your doctor.
📋 Eligibility rules (as published)
Inclusion Criteria :
CTD male patients :
* male
* having a confirmed mutation in the SLC6A8 gene
* ≥ 5 to ≤ 35 years old
* whose maternal language is French,
* having signed the informed consent and/or for whom parents (for children)/legal guardian (for protected adults) have signed the informed consent.
* affiliated to national Health Insurance system (sécurité sociale) or parents/legal guardian affiliated to national health insurance system
CTD female patients :
* female CTD patients having a confirmed mutation in the SLC6A8 gene,
* aged \> 5 to \< 60 years,
* whose maternal language is French (for the patients included in France),
* having signed the informed consent and/or for whom parents (for children)/legal guardian (for protected adults) have signed the informed consent.
* affiliated to national Health Insurance system (sécurité sociale) or parents/legal guardian affiliated to national health insurance system
FXS patients :
* male
* having a confirmed full mutation in the FMR1 gene (\>200 GCC repeats)
* ≥ 5 to ≤ 35 years old
* whose maternal language is French,
* having signed the informed consent and/or for whom parents (for children)/legal guardian (for protected adults) have signed the informed consent.
* affiliated to national Health Insurance system (sécurité sociale) or parents/legal guardian affiliated to national health insurance system
Sex- and chronological age-matched male controls :
* male
* ≥ 5 to ≤ 35 years old
* whose maternal language is French,
* having signed the informed consent and/or for whom parents have signed the informed consent.
* affiliated to national Health Insurance system (sécurité sociale) or parents/legal guardian affiliated to national health insurance system
Sex- and chronological age-matched female controls :
* female,
* aged \> 5 to \< 60 years
* whose maternal language is French (for the patients included in France),
* having signed the informed consent and/or for whom parents/legal guardian have signed the informed consent.
* affiliated to national Health Insurance system (sécurité sociale) or parents/legal guardian affiliated to national health insurance system.
Each CTD patient will be matched to a sex- and chronological age-matched control.
Exclusion Criteria:
CTD male and female patients :
* Refusal of the subject and/or the subject's parents/legal guardian to sign the informed consent
* Refusal of the subject and/or the subject's parents/legal guardian to be informed of possible abnormalities detected during the neuropsychological assessment.
FXS patients :
* Refusal of the subject and/or the subject's parents/legal guardian to sign the informed consent
* Refusal of the subject and/or the subject's parents/legal guardian to be informed of possible abnormalities detected during the neuropsychological assessment.
Sex- and chronological age-matched male and female controls :
* Refusal of the subject and/or the subject's parents/legal guardian to sign the informed consent
* Refusal of the subject and/or the subject's parents/legal guardian to be informed of possible abnormalities detected during the neuropsychological assessment.
* History of neurological or psychiatric disorder,
* Repetition of a grade,
* Learning disability requiring rehabilitation (speech therapy, psychomotor or oculomotor therapy).
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