Genetic Markers and Biomarkers in Patients With Intellectual Disabilities of Genetic Origin (BioJeL)

Institut Jerome Lejeune

Status: Enrolling

Conditions: Down Syndrome; Intellectual Disability

Treatments: Other: Biological samplings

Study type: Interventional

Funder types: Other

Identifiers

NCT05767203

BioJeL

Details and patient eligibility

About

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.

Full 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.

Enrollment: 2,000 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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

Trial design

Primary purpose: Basic Science

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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2,000 participants in 1 patient group

Patients with Down syndrome or other Intellectual deficiency of genetic origin

Experimental group

Description:

Patients with Down syndrome or with other intellectual deficiency of genetic origin followed at the outpatients clinic of the Institut Jérôme Lejeune.

Treatment:

Other: Biological samplings