GenIDA: International participatory platform for research into genetic forms of intellectual development disorders, with or without autism and epilepsy.

France, Australia, Canada...and 5 more, 2016 - 3000

Reference ID

FReSH-43671-en

Producer(s)

Jean-Louis;MANDEL

Metadata

DDI/XML JSON

Study website Interactive tools

Created on

Jul 27, 2026

Last modified

Oct 05, 2026

Page views

Identification

Survey ID number

FReSH-43671-en

Title

GenIDA: International participatory platform for research into genetic forms of intellectual development disorders, with or without autism and epilepsy.

Abbreviation or Acronym

GenIDA

Country

Name	Country code
France	fr
Australia	au
Canada	ca
Germany	de
Netherlands	nl
Spain	es
United kingdom	gb
United states	us

Abstract

Intellectual disability (ID) affects approximately 2–3% of the population. More than half of these cases are believed to be linked to a genetic cause, such as a gene mutation, a chromosomal abnormality, or a copy number variation (CNV). Advances in high-throughput sequencing have made it possible to identify more than 1,800 recurrent genes involved in these forms of ID/autism. Despite these advances, for many of these syndromes, clinical, behavioral, medical, and natural history data remain very limited due to their rarity and the small number of affected patients.
It was against this backdrop that GenIDA was created—an international, participatory database aimed at improving our understanding of these genetic forms of ID. It enables the standardized, longitudinal collection of information on the clinical manifestations and comorbidities of individuals with a genetic form of ID and/or ASD. Data are primarily provided by families through a structured questionnaire available in 10 languages. This participatory and multilingual approach facilitates the engagement of families around the world, thereby promoting recruitment.
Analysis of this data makes it possible to group patients into gene- or syndrome-based cohorts of sufficient size to better describe the various profiles associated with each genetic abnormality. In particular, it allows for the study of the frequency of clinical manifestations and comorbidities, as well as their age of onset, severity, and progression over time.

Kind of Data

['Participant-reported health data']

Unit of Analysis

Individus

Scope

Topics

Topic	Vocabulary
Cardiology and vascular medicine	health theme
Clinical immunology	health theme
Dentistry	health theme
Dermatology	health theme
Endocrinology	health theme
Gastroenterology	health theme
Hematology	health theme
Hepatology	health theme
Infectious disease medicine	health theme
Medical genetics	health theme
Nephrology	health theme
Neurology	health theme
Nutrition and dietetics	health theme
Oncology	health theme
Ophthalmology	health theme
Orthopaedics and traumatology	health theme
Otolaryngology	health theme
Paediatrics	health theme
Psychiatry	health theme
Pulmonary medicine	health theme
Rheumatology	health theme
Disorders of intellectual development	cim-11

Keywords

Genetic disease Rare disease Intellectual disability Natural History Comorbidity Participatory research Autism ASD IDD Epilepsy

Coverage

Geographic Coverage

['Auvergne Rhône-Alpes','Bourgogne Franche-Comté','Bretagne','Centre-Val de Loire','Corse','Grand Est','Guadeloupe','Guyane','Hauts-de-France','Ile-de-France','La Réunion','Martinique','Mayotte','Normandie','Nouvelle-Aquitaine','Occitanie','Pays de la Loire','Provence - Alpes - Côte d'Azur']

Universe

{
"level_sex_clusion_I": [
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D005260"
},
"value": "Female"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D008297"
},
"value": "Male"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": ""
},
"value": "Other"
}
],
"level_age_clusion_I": [
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D007231"
},
"value": "Infant, Newborn (birth to 28 days)"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D007223"
},
"value": "Infant (28 days to 2 years)"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D002675"
},
"value": "Child, Preschool (2 to 5 years)"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D002648"
},
"value": "Child (6 to 12 years)"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D000293"
},
"value": "Adolescent (13 to 18 years)"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D055815"
},
"value": "Young Adult (19 to 24 years)"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D000328"
},
"value": "Adult (25 to 44 years)"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D008875"
},
"value": "Middle Aged (45 to 64 years)"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D000368"
},
"value": "Aged (65 to 79 years)"
},
{
"concept": {
"vocab": "MeSH",
"vocabURI": "D000369"
},
"value": "Aged, 80 and over (80 years and more)"
}
],
"level_type_clusion_I": "Patients population",
"level_type_clusion_other": "",
"clusion_I": "There are two inclusion criteria that must be met in order to be included in the study:\r\n• Have a neurodevelopmental disorder, with or without autism and\/or epilepsy\r\n• Have been diagnosed as a carrier of a genetic abnormality responsible for this disorder",
"clusion_E": "There are two exclusion criteria, which are:\r\n• To have a genetic abnormality classified as a “variant of uncertain significance” (VUS)\r\n• The absence of an established genetic diagnosis to explain the neurodevelopmental disorder."
}

Producers and sponsors

Primary investigators

Name
Jean-Louis;MANDEL

Producers

Name	Role
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)	sponsor

Funding Agency/Sponsor

Name
UNIVERSITE DE STRASBOURG
Fondation Jérôme Lejeune
Roche Pharma France
GIS autisme et troubles du neurodéveloppement
Stras&ND

Other Identifications/Acknowledgments

Name
GenIDA promotes data sharing and scientific collaboration. We work closely with researchers, healthcare professionals, and family organizations in several countries. These collaborations span various medical fields and the different rare diseases studied by GenIDA. They enable the development of joint research projects as well as the sharing of clinical and behavioral data, knowledge, and expertise among the various partners. GenIDA’s network of collaborators includes, among others, David Koolen, MD, PhD (NL); Charlotte Ockeloen, MD, PhD (NL); Amelie Piton, MCU-PH (FR) ; Anne de Saint Martin, MD, PhD (FR); Ines Fernandes Ulibarri, PhD, co-founder of the Kleefstra España association (ES); Thomas Smol, MD, PhD (FR); Angela Morgan, PhD (AU); Tanja Zdolsek Draksler, PhD, family representative and mother of a child with Kleefstra syndrome (SLO)...

Study authorization

Agency

Agency name
CNIL
Other

Sampling

Sample frame

Unit Type

['Other']

Sampling Procedure

['{"concept":{"vocab":"CESSDA","vocabURI":"Nonprobability"},"value":"Non-probability"}','{"concept":{"vocab":"CESSDA","vocabURI":"Nonprobability.Availability"},"value":"Non-probability: Availability (convenience or opportunity sampling)"}','{"concept":{"vocab":"CESSDA","vocabURI":"Other"},"value":"Other"}']

Survey instrument

Questionnaires

Aggregated and anonymized data are available to participants and healthcare professionals registered on GenIDA.

Methodology notes

Observational Study

Data collection

Dates of Data Collection

Start	End
2016-07-15	3000-01-01

Time Method

Retrospective longitudinal

Frequency of Data Collection

Ongoing data collection. Families and loved ones can enter data at any time, on their own, through the GenIDA platform, which is available 24/7.

Mode of data collection

{"concept":{"vocab":"CESSDA","vocabURI":"SelfAdministeredQuestionnaire"},"value":"Self-administered questionnaire"}

Study activities

Type

primary evaluation

Description

Frequency and characteristics of the clinical, medical, cognitive, and behavioral manifestations reported in patients included in the various GenIDA cohorts. These manifestations are assessed based on their age of onset, their course, and, where relevant, their severity.

Study activities

Type

secondary evaluation

Data Access

Access authority

Name	Email
Victoria;HINCKELMANN	genida@igbmc.fr
Jean-Louis;MANDEL	jlmandel@igbmc.fr

Access conditions

The data may be used for scientific research purposes, in accordance with GenIDA’s “User Data Charter.”

Citation requirements

Any scientific publication, presentation, or communication that uses data or results from GenIDA must cite GenIDA. The guidelines for citing and crediting GenIDA must be determined in consultation with the GenIDA team.

Deposit requirements

Any use of the data must be reported to GenIDA prior to its use. Users are encouraged to contact GenIDA when preparing research projects or scientific articles to clarify the terms of collaboration and how GenIDA should be credited.

Availability Status

{"extLink":{"title":"COAR","uri":"http://purl.org/coar/access_right/c_16ec"},"value":"Restricted access"}

Special Permissions

Indicate if special permissions are required to access a resource	Special permissions description
Yes	https://genida.eu/home. Aggregated and anonymized data are directly accessible on the GenIDA website. They are available to participants after they have completed their online questionnaire, and to professionals after their registration has been approved. Access to anonymized individual data requires a specific request, submitted via the GenIDA website or by email, and is subject to approval.

Restrictions

The data may be used for scientific research purposes, in accordance with GenIDA’s “User Data Charter.”

Contacts

Name	Email
Jean-Louis;MANDEL	jlmandel@igbmc.fr
María Victoria;HINCKELMANN	genida@igbmc.fr

Metadata production

DDI Document ID

FReSH-43671-en

Producers

Name
Sonia GUEGUEN

Back to Catalog