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

NCT05767203 | Recruiting

• 1 other identifier: BioJeL
• Study Type: interventional
• Target: 2,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Down Syndrome; Intellectual Disability

Outcome Measures

Primary Outcomes (2)

• Identification of biomarkers in blood

  Analysis of biomarkers from blood samples taken during the visit

  10 years

• Identification of biomarkers from skin samples

  Analysis of biomarkers from skin samples taken during the visit

  10 years

Study Arms (1)

Patients with Down syndrome or other Intellectual deficiency of genetic origin

EXPERIMENTAL

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

Other: Biological samplings

Interventions

Biological samplings OTHER

Blood and/or skin samples

Patients with Down syndrome or other Intellectual deficiency of genetic origin

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Institut Jerome Lejeune: lead

Study Sites (1)

Institut Jérôme Lejeune

Paris, 75015, France

RECRUITING

MeSH Terms

Conditions

Down Syndrome; Intellectual Disability

Condition Hierarchy (Ancestors)

Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders

Central Study Contacts

Sophie Durand

CONTACT

+33156586300; sophie.durand@institutlejeune.org

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 7, 2023
• First Posted: March 14, 2023
• Study Start: September 1, 2022
• Primary Completion (Estimated): September 1, 2032
• Study Completion (Estimated): December 31, 2032
• Last Updated: March 14, 2023

Record last verified: 2023-03

Locations

FR (1)