Search for Phenotype-modifying Genes in Patients With Intellectual Disabilities.
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Intellectual Disability. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Search for Phenotype-modifying Genes in Patients With Intellectual Disabilities GWAS-2DI.
Overview
Each form of intellectual disability under study is a rare disease in its own right, and it is therefore difficult to study the variability of its expression. It therefore appears necessary to study large series of patients with intellectual disabilities. The objective is to identify variants in phenotype-modifying genes in patients with intellectual disability.
Detailed description
Thanks to the contribution of NGS analyses (exome and genome analysis), the rate of etiological diagnosis in intellectual disability is currently approaching 42% in some meta-analyses. At Bordeaux University Hospital, since 2017, 700 patients have been sequenced for intellectual disability, with a diagnostic rate of 33%.
In genetics, epistasis refers to the interaction between two or more genes. As part of its previous work, BIONOMEEX has developed an algorithm called GWAS-2D (genome wide association study 2 dimension) which makes it possible to observe, from a large number of samples and for a given phenotype, the relationships existing between two loci on the genome.
The GWAS-2DI project involves the reanalysis of exome sequencing data from patients with intellectual disabilities at Bordeaux University Hospital, using a GWAS-2D algorithm developed by BIONOMEEX to search for phenotype-modifying genes.
Primary outcome measures
- Variants in phenotype-modifying genes [Time frame: Inclusion visit]
Secondary outcome measures (1)
- Phenotypic traits [Time frame: Inclusion visit]
Eligibility criteria
Inclusion criteria
- Patients with Intellectual Disability or related but not affected by them
- Major or minor with autorisation of legal representative
- Exome sequencing in Bordeaux University Hospital between 2018 and 2024
Exclusion criteria
- Refusal to participate in research protocols
- Refusal to participate expressed following receipt of information letter.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Case-control
Study locations
France · 1 center
- Chu de Bordeaux — Bordeaux
Identifiers
NCT: NCT06706934 · CHUBX 2024 75