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

Primary Purpose

Down Syndrome, Intellectual Disability

Status
Recruiting
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Biological samplings
Sponsored by
Institut Jerome Lejeune
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional basic science trial for Down Syndrome

Eligibility Criteria

undefined - undefined (Child, Adult, Older Adult)All SexesAccepts 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

Sites / Locations

  • Institut Jérôme LejeuneRecruiting

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

Patients with Down syndrome or other Intellectual deficiency of genetic origin

Arm Description

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

Outcomes

Primary Outcome Measures

Identification of biomarkers in blood
Analysis of biomarkers from blood samples taken during the visit
Identification of biomarkers from skin samples
Analysis of biomarkers from skin samples taken during the visit

Secondary Outcome Measures

Full Information

First Posted
February 7, 2023
Last Updated
March 1, 2023
Sponsor
Institut Jerome Lejeune
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1. Study Identification

Unique Protocol Identification Number
NCT05767203
Brief Title
Genetic Markers and Biomarkers in Patients With Intellectual Disabilities of Genetic Origin
Acronym
BioJeL
Official Title
Search for Genetic Markers and Biomarkers to Follow Patients With Intellectual Disabilities of Genetic Origin and to Understand Its Origin and Associated Comorbidities
Study Type
Interventional

2. Study Status

Record Verification Date
March 2023
Overall Recruitment Status
Recruiting
Study Start Date
September 1, 2022 (Actual)
Primary Completion Date
September 1, 2032 (Anticipated)
Study Completion Date
December 31, 2032 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Institut Jerome Lejeune

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Down Syndrome, Intellectual Disability

7. Study Design

Primary Purpose
Basic Science
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
2000 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
Patients with Down syndrome or other Intellectual deficiency of genetic origin
Arm Type
Experimental
Arm Description
Patients with Down syndrome or with other intellectual deficiency of genetic origin followed at the outpatients clinic of the Institut Jérôme Lejeune.
Intervention Type
Other
Intervention Name(s)
Biological samplings
Intervention Description
Blood and/or skin samples
Primary Outcome Measure Information:
Title
Identification of biomarkers in blood
Description
Analysis of biomarkers from blood samples taken during the visit
Time Frame
10 years
Title
Identification of biomarkers from skin samples
Description
Analysis of biomarkers from skin samples taken during the visit
Time Frame
10 years

10. Eligibility

Sex
All
Accepts Healthy Volunteers
Accepts Healthy Volunteers
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
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Sophie Durand
Phone
+33156586300
Email
sophie.durand@institutlejeune.org
Facility Information:
Facility Name
Institut Jérôme Lejeune
City
Paris
ZIP/Postal Code
75015
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Sophie Durand
Phone
+33156586300
Email
sophie.durand@institutlejeune.org

12. IPD Sharing Statement

Plan to Share IPD
Undecided

Learn more about this trial

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

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