Understanding the genetics of intellectual disabilities and autism spectrum disorders
Genetic of Intellectual Deficiency and Autism Spectrum Disorders
This study is trying to gather information from families to see how certain genetic changes are linked to intellectual disabilities and autism, with the hope of improving treatment and care for those affected.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Institut National de la Santé Et de la Recherche Médicale, France Government |
| Locations | 1 site (Paris, Île-de-France Region) |
| Trial ID | NCT06871696 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include adult family members of patients with known genetic causes of intellectual disabilities or autism spectrum disorders.
Not a fit: Patients without a known genetic cause for their intellectual disabilities or autism spectrum disorders may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better personalized medical management for individuals with intellectual disabilities and autism spectrum disorders.
How similar studies have performed: Other studies focusing on genetic origins of intellectual disabilities and autism have shown promise, indicating potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Paris, Île-de-France Region
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.