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

Launched by UNIVERSITY HOSPITAL, BORDEAUX · Nov 22, 2024

Keywords

ClinConnect Summary

This clinical trial is focused on understanding the genetic factors that may influence different forms of intellectual disabilities. Researchers are looking to study a large group of patients to identify specific genes that could change how these disabilities are expressed in individuals. By doing this, they hope to gain insights that can help improve diagnosis and treatment options for people with intellectual disabilities.

To participate in this trial, individuals of any age who have been diagnosed with an intellectual disability, or who are related to someone with one, may be eligible. Participants will need the permission of a legal representative if they are minors. The trial is set to start soon and will involve taking a close look at genetic information collected from patients at Bordeaux University Hospital. It’s important for potential participants to understand that they will need to agree to take part in the research after receiving all the necessary information. This study aims to make a meaningful impact on how we understand and treat intellectual disabilities.

Gender

ALL

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.