Genetic Markers and Biomarkers in Patients With Intellectual Disabilities of Genetic Origin

Not Applicable

Recruiting

• Conditions: Down Syndrome; Intellectual Disability
• Interventions: Other: Biological samplings

• Registration Number: NCT05767203
• Lead Sponsor: Institut Jerome Lejeune

Brief Summary

Analyze genetic and biological markers in patients with Intellectual Deficiencies (ID) of genetic origin in order to better understand the mechanisms of modified genes, cellular mechanisms, pathways involved in different disorders , complications and pathologies associated with ID of genetic origin.

Detailed Description

Blood and skin samples will be taken from patients coming at the outpatients clinic of the Institut Jérôme Lejeune and who consent to participate to the study. Search and identification of markers will be then done from the collected samples.

Study Timeline

• Study Start: 2022-09-01
• Study First Submitted: 2023-02-07
• Status Verified: 2023-03
• Study First Submitted QC: 2023-03-01
• Last Update Submitted: 2023-03-01
• Study First Posted: 2023-03-14
• Last Update Posted: 2023-03-14
• Primary Completion: 2032-09-01
• Study Completion: 2032-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 2000

Inclusion Criteria

• Patient diagnosed with an intellectual disability of genetic origin
• Patient of all ages coming for consultation at the Institut Jérôme Lejeune
• Patient whose parents or legal representative have received and understood the information document and signed the informed consent for a sample for the research project.
• Patient affiliated to a social security scheme

Exclusion Criteria

• Parents unable to find out about the constraints related to the study
• Refusal of informed patient participation
• Pregnant, parturient and nursing mothers
• Persons deprived of their liberty by judicial or administrative decision

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Patients with Down syndrome or other Intellectual deficiency of genetic origin	Biological samplings	Patients with Down syndrome or with other intellectual deficiency of genetic origin followed at the outpatients clinic of the Institut Jérôme Lejeune.

Primary Outcome Measures

Name	Time	Method
Identification of biomarkers in blood	10 years	Analysis of biomarkers from blood samples taken during the visit
Identification of biomarkers from skin samples	10 years	Analysis of biomarkers from skin samples taken during the visit

Trial Locations

Locations (1)

Institut Jérôme Lejeune; 🇫🇷 Paris, France