Search for Phenotype-modifying Genes in Patients With Intellectual Disabilities. (GWAS-2DI)

Search for Phenotype-modifying Genes in Patients With Intellectual Disabilities GWAS-2DI.

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.

Study Overview

• Status: Not yet recruiting
• Conditions: 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.

• Study Type: Observational
• Enrollment (Estimated): 1400

Contacts and Locations

• Study Contact: Name: Vincent MICHAUD, MD; Phone Number: +33556795952; Email: vincent.michaud@chu-bordeaux.fr

Study Locations

• France
  • Bordeaux, France
    • CHU de Bordeaux
    • Contact: Vincent MICHAUD; Phone Number: +33556795952; Email: vincent.michaud@chu-bordeaux.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Patients with intellectual disabilities or related but not affected by them

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Patients; Patients group with intellectual disability
Control; Control group without intellectual disability

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Variants in phenotype-modifying genes	Identifying variants in phenotype-modifying genes in patients with intellectual disability.	Inclusion visit

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Phenotypic traits	Correlation phenotypic traits with additional diagnostic variants	Inclusion visit

Collaborators and Investigators

• Sponsor: University Hospital, Bordeaux
• Investigators: Principal Investigator: Vincent MICHAUD, MD, University Hospital, Bordeaux

Study record dates

Study Major Dates

• Study Start (Estimated): March 1, 2025
• Primary Completion (Estimated): July 1, 2027
• Study Completion (Estimated): July 1, 2027

Study Registration Dates

• First Submitted: November 22, 2024
• First Submitted That Met QC Criteria: November 22, 2024
• First Posted (Actual): November 27, 2024

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: February 26, 2025
• Last Verified: November 1, 2024

More Information

Terms related to this study

• Keywords: Intellectual Disability; epistatic interaction
• Additional Relevant MeSH Terms: Neurologic Manifestations; Nervous System Diseases; Mental Disorders; Neurobehavioral Manifestations; Neurodevelopmental Disorders; Intellectual Disability
• Other Study ID Numbers: CHUBX 2024 75

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