Genetic of Intellectual Deficiency and Autism Spectrum Disorders (RaDiCo-GenIDA) (RaDiCo-GenIDA)

March 10, 2026 updated by: Institut National de la Santé Et de la Recherche Médicale, France

Genetic of Intellectual Deficiency and Autism Spectrum Disorders

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.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • France
    • Île-de-France Region
      • Paris, Île-de-France Region, France, 75012
        • Recruiting
        • RaDiCo-GenIDA
        • Contact:
        • Principal Investigator:
          • Jean-Louis Mandel, Pr

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

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.

Description

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)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Institut National de la Santé et de la Recherche Médicale, France

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
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
Day 1, Every 6 months over 5 years

Secondary Outcome Measures

Outcome Measure
Time Frame
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
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
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
Day 1, Every 6 months over 5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Institut National de la Santé Et de la Recherche Médicale, France

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 1, 2016

Primary Completion (Estimated)

November 1, 2026

Study Completion (Estimated)

November 1, 2026

Study Registration Dates

First Submitted

March 6, 2025

First Submitted That Met QC Criteria

March 6, 2025

First Posted (Actual)

March 12, 2025

Study Record Updates

Last Update Posted (Actual)

March 11, 2026

Last Update Submitted That Met QC Criteria

March 10, 2026

Last Verified

March 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • C14-35

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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