An observational study in Genetic of Intellectual Deficiency and Autism Spectrum Disorder, sponsored by Institut National de la Santé Et de la Recherche Médicale, France. Recruiting at 1 site in France. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-03-11.
Sponsored by Institut National de la Santé Et de la Recherche Médicale, France · Observational
The aim of this observational study is to develop an alternative database model for genetically originated intellectual disabilities. This model will take the form of an online cohort study, where the majority of clinical information will be provided by the families of the patients. Questionnaires developed by professionals but formulated in a way understandable to families will be used to gather this information.
Specifically, this study aims to collect relevant information for personalized medical management. This includes understanding the risks of specific pathological complications and potential iatrogenic effects of symptomatic treatments. The primary goal is to establish groups of individuals with intellectual disabilities and/or autism spectrum disorders (ASD) sharing the same genetic mutation. This approach will provide a better understanding of the natural history of the disease and associated comorbidities.
It is important to note that this project will only focus on patients for whom the identification of the causal mutation or penetrant copy number variation (CNV) has been determined. It excludes individuals for whom the cause of intellectual disability is unknown.
This approach will contribute to a better understanding of the genetic aspects of intellectual disabilities and ASD, while facilitating more targeted and personalized medical care for the affected patients.
1,724 studies on the registry are indexed under Autism Spectrum Disorder; 500 are open to participants now.
This study's planned enrollment of 1,000 is above the median of 102 across 320 observational studies indexed under Autism Spectrum Disorder.
Browse Autism Spectrum Disorder studies →Institut National de la Santé Et de la Recherche Médicale, France is the lead sponsor of 378 studies on the registry; 81 are open to participants now.
Counted across the registry records on this site, refreshed daily.
The studied population includes all patients (and their relatives*) affected by intellectual disability (ID) and/or autism spectrum disorders (ASD) of known genetic origin, on an international scale.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
There are no restrictions based on age, gender, or potential comorbidities of the individual themselves.
Exclusion Criteria:
Description of the clinical and "para-clinical" characteristics of the disease over time in adult and pediatric patients, depending on the type of genetic anomaly associated with the disease.
Time frame: Day 1, Every 6 months over 5 years
Identification of new information regarding the challenges faced by individuals with Intellectual Disability/Autism Spectrum Disorder (ID/ASD), based on their age (pediatric/adult) and type of anomaly (genetic/environmental factor).
Time frame: Day 1, Every 6 months over 5 years
Search for associations between certain phenotypic and genotypic/environmental factor characteristics to which individuals have been exposed.
Time frame: Day 1, Every 6 months over 5 years
Description of the dynamics of exchanges among families (no access to content, description of the number of participating families, frequency of exchanges, etc.)
Time frame: Day 1, Every 6 months over 5 years
Plan to share: No
No publications or documents are linked to this record.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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