Understanding the genetics of intellectual disabilities and autism spectrum disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to create an online cohort database focused on genetically originated intellectual disabilities and autism spectrum disorders. Families of affected individuals will provide clinical information through user-friendly questionnaires designed by professionals. The study seeks to group individuals based on shared genetic mutations to enhance understanding of the disease's natural history and associated comorbidities. The ultimate goal is to improve personalized medical management by identifying risks and potential treatment effects.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Be a voluntary adult (aged 18 or older)
* Be a family member (i.e., mother/father) of patients with intellectual disabilities and/or autism spectrum disorders of known genetic origin. This includes monogenic causes as well as recurrent copy number variations (CNVs) such as deletions or duplications. Note: we also allow adult patients to participate directly if they wish and have the capacity to do so.
* Have knowledge of the genetic cause behind intellectual disabilities or autism spectrum disorders. An exception to this rule is possible for patients with a syndrome that includes intellectual disabilities or autism spectrum disorders, and for whom genetic investigation is considered, with the approval of the project's scientific council (which will define the syndromes eligible for this exception).
* Have the intellectual and material capabilities to complete an internet questionnaire.
* Have read the information sheet regarding the study and agreed to the general conditions of participation in the study.

There are no restrictions based on age, gender, or potential comorbidities of the individual themselves.

Exclusion Criteria:

* Patients affected by the presence of intellectual disability and/or an autism spectrum disorder of unknown genetic origin will not be able to participate in the study, except with the exception mentioned in the previous chapter.
* It is requested that only adults enter data. However, the collected data may pertain to a minor (in the case of a parent entering data about their minor child)

Where it's running

• RaDiCo-GenIDA
  Paris, Île-de-France Region, France Recruiting

Study contacts

• Study coordinator: Jean-Louis Mandel, Pr
• Email: jean-louis.mandel@igbmc.fr
• Phone: 03 88 65 32 10

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.