Rare Disease Trial, Recruiting

Written by an AI model from ClinicalTrials.gov eligibility criteria and checked on a sample basis. Please confirm against the original criteria.

Who might be able to join this trial:

For males with CTD (Creatine Transporter Deficiency):

• You are male
• You have a confirmed change (mutation) in the SLC6A8 gene
• You are between 5 and 35 years old
• Your first/native language is French
• You (and/or your parents or legal guardian) have agreed and signed the consent form
• You (or your parents/legal guardian) are covered by the French national health insurance system

For females with CTD:

• You are female with a confirmed change (mutation) in the SLC6A8 gene
• You are between 5 and 60 years old
• Your first/native language is French (for those joining in France)
• You (and/or your parents or legal guardian) have agreed and signed the consent form
• You (or your parents/legal guardian) are covered by the French national health insurance system

For males with FXS (Fragile X Syndrome):

• You are male with a confirmed full mutation in the FMR1 gene
• You are between 5 and 35 years old
• Your first/native language is French
• You (and/or your parents or legal guardian) have agreed and signed the consent form
• You (or your parents/legal guardian) are covered by the French national health insurance system

For healthy volunteers (control group, male or female):

• You are between 5 and 35 years old (males) or between 5 and 60 years old (females)
• Your first/native language is French
• You (and/or your parents or legal guardian) have agreed and signed the consent form
• You (or your parents/legal guardian) are covered by the French national health insurance system

Who may not be able to join:

For all groups (CTD patients, FXS patients, and healthy volunteers):

• You or your parents/legal guardian refuse to sign the consent form
• You or your parents/legal guardian do not wish to be told about any unexpected findings discovered during the brain and thinking skills assessments

For healthy volunteers only (control group), also if:

• You have a history of any neurological (brain/nervous system) or psychiatric (mental health) condition
• You have ever repeated a school year
• You have a learning difficulty that requires specialist support, such as speech therapy or movement/eye coordination therapy

Important: Always verify eligibility with the trial site directly before applying.