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:

• You can be any gender, and any age from newborn to 99 years old
• You (or your child) have been diagnosed with intellectual disability and/or low muscle tone (floppiness) that started in the newborn period, and are being seen at one of the three hospitals involved in this study
• You (or your child's parent or guardian) have been told about the study and have agreed to take part by signing a consent form
• Advanced genetic testing (such as a gene panel, exome, or genome test) has already been done but did not find a clear explanation for the symptoms
• If the symptoms looked like Prader-Willi or Angelman syndrome: a specific chromosome 15 test came back negative
• If the symptoms looked like Fragile X syndrome: a specific test for the FMR1 gene came back negative
• If the symptoms looked like Myotonic Dystrophy type 1: a specific test for the DMPK gene came back negative
• You (or your child) are covered by a French social security or health insurance scheme

Who may not be able to join:

• People who are currently in prison or otherwise deprived of their freedom
• Women who are pregnant or currently breastfeeding
• The person who needs to sign the consent form does not understand French
• People who are under legal guardianship or curatorship (a court-appointed legal protection arrangement)

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