GenIDA: International participatory platform for research into genetic forms of intellectual development disorders, with or without autism and epilepsy. FReSH-43671-en Sonia GUEGUEN GenIDA: International participatory platform for research into genetic forms of intellectual development disorders, with or without autism and epilepsy. GenIDA FReSH-43671-en NCT06871696 Jean-Louis MANDEL INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM) France Recherche en Santé Humaine (FReSH) UNIVERSITE DE STRASBOURG Fondation Jérôme Lejeune Roche Pharma France GIS autisme et troubles du neurodéveloppement Stras&ND null Jean-Louis;MANDEL María Victoria;HINCKELMANN CNIL Other Genetic disease Rare disease Intellectual disability Natural History Comorbidity Participatory research Autism ASD IDD Epilepsy Cardiology and vascular medicine Clinical immunology Dentistry Dermatology Endocrinology Gastroenterology Hematology Hepatology Infectious disease medicine Medical genetics Nephrology Neurology Nutrition and dietetics Oncology Ophthalmology Orthopaedics and traumatology Otolaryngology Paediatrics Psychiatry Pulmonary medicine Rheumatology Disorders of intellectual development The primary objective of this study is to characterize—based on data collected from the GenIDA database—the clinical, medical, cognitive, and behavioral manifestations, as well as the natural history, of genetic forms of intellectual disability with or without autism and epilepsy. More specifically, this study aims to: o establish and expand international cohorts of patients with a specific genetic abnormality; o describe the phenotypic spectrum associated with each of these genetic abnormalities; o identify the frequency and variety of associated comorbidities o to study changes in clinical manifestations and cognitive and behavioral abilities over time, through longitudinal data collection; o to highlight manifestations that may be underestimated or have not yet been described; o to help improve the medical care and follow-up for affected individuals by generating data that is useful to families, clinicians, geneticists, and other healthcare professionals. The overall goal is therefore to transform the collaborative collection of data by families into new and medically significant insights regarding rare genetic neurodevelopmental disorders. 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. France Australia Canada Germany Netherlands Spain United kingdom United states 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 Individus Patients population Female Male Other Infant, Newborn (birth to 28 days) Infant (28 days to 2 years) Child, Preschool (2 to 5 years) Child (6 to 12 years) Adolescent (13 to 18 years) Young Adult (19 to 24 years) Adult (25 to 44 years) Middle Aged (45 to 64 years) Aged (65 to 79 years) Aged, 80 and over (80 years and more) There are two inclusion criteria that must be met in order to be included in the study: • Have a neurodevelopmental disorder, with or without autism and/or epilepsy • Have been diagnosed as a carrier of a genetic abnormality responsible for this disorder There are two exclusion criteria, which are: • To have a genetic abnormality classified as a “variant of uncertain significance” (VUS) • The absence of an established genetic diagnosis to explain the neurodevelopmental disorder. Participant-reported health data GenIDA’s Scientific Advisory Board is composed of about 20 internationally recognized physicians and researchers from several countries with expertise in genetically caused neurodevelopmental disorders, as well as representatives from patient and family organizations. Its exact composition may change from year to year, depending in particular on the availability and commitment of its members. 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. Retrospective longitudinal 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. Non-probability Non-probability: Availability (convenience or opportunity sampling) Other Other [1000-10000[ individuals Self-administered questionnaire Observational Study Observational Study Cohort study Other 2524 participants Ongoing study Restricted access 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. The data may be used for scientific research purposes, in accordance with GenIDA’s “User Data Charter.” Victoria;HINCKELMANN Jean-Louis;MANDEL 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. 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. The data may be used for scientific research purposes, in accordance with GenIDA’s “User Data Charter.” Aggregated and anonymized data are available to participants and healthcare professionals registered on GenIDA.