Search for Genetic Markers and Biomarkers to Follow Patients With Intellectual Disabilities of Genetic Origin and to Understand Its Origin and Associated Comorbidities
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Down Syndrome
- Sponsor
- Institut Jerome Lejeune
- Enrollment
- 2000
- Locations
- 1
- Primary Endpoint
- Identification of biomarkers in blood
- Status
- Recruiting
- Last Updated
- 3 years ago
Overview
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.
Investigators
Eligibility Criteria
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
Outcomes
Primary Outcomes
Identification of biomarkers in blood
Time Frame: 10 years
Analysis of biomarkers from blood samples taken during the visit
Identification of biomarkers from skin samples
Time Frame: 10 years
Analysis of biomarkers from skin samples taken during the visit