Study details

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

GenIDA

Ongoing study

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.

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

Yes

France Australia Canada Germany Netherlands Spain United kingdom United states

Oui

Le Conseil scientifique de GenIDA est composé d’une vingtaine de médecins et chercheurs internationalement reconnus provenant de plusieurs pays et avec une expertise dans les troubles du neurodéveloppement d’origine génétique, ainsi que des représentants d’associations de patients et de familles. Sa composition précise peut évoluer d’une année à l’autre, en fonction notamment de la disponibilité et de l’engagement des professionnels qui le composent.

Oui

GenIDA favorise le partage des données et la collaboration scientifique. L'équipe travaille en lien étroit avec des chercheurs, des professionnels de santé et des associations de familles dans plusieurs pays. Ces collaborations concernent différents domaines médicaux et différentes maladies rares. Elles permettent de développer des projets de recherche communs, ainsi que le partage de données cliniques et comportementales, de connaissances et d'expertise entre les partenaires. Le réseau de collaborateurs de GenIDA comprend, sans que cette liste soit exhaustive, D. Koolen (NL) ; C. Ockeloen (NL) ; A. Piton (FR) ; I. Fernandes Ulibarri, Association Kleefstra España (ES) ; T. Smol (FR) ; A. Morgan (AU) ; T. Zdolsek Draksler (SLO) ; E. Schaeffer (FR) ; A. Gregor (CH) ; F. Roper Conquer, MED13L France (FR) ; et P. Fenaux, UNAPEI (FR). Ce réseau évolue en fonction des besoins scientifiques et cliniques liés aux maladies étudiées dans GenIDA et reste ouvert à de nouvelles collaborations.

Individus

Etude observationnelle

Cohorte

Longitudinale rétrospective

Oui

Fréquence et caractéristiques des manifestations cliniques, médicales, cognitives et comportementales rapportées chez les patients inclus dans les différentes cohortes GenIDA. Ces manifestations sont évaluées selon leur âge d'apparition, leur évolution et, lorsque cela est pertinent, leur sévérité.