Genetic Markers and Biomarkers in Patients With Intellect... | NCT05767203

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

NCT05767203

Sponsor

Institut Jerome Lejeune

Status

Recruiting

Last Update Posted

Mar 14, 2023Actual

Enrollment

2,000Estimated

Phase

Not Applicable

Conditions

Down Syndrome
Intellectual Disability

Interventions

Biological samplings

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Mar 2023

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 1, 2022Actual

Primary Completion Date

Sep 1, 2032Estimated

Completion Date

Dec 31, 2032Estimated

First Submitted Date

Feb 7, 2023

First Submission Date that Met QC Criteria

Mar 1, 2023

First Posted Date

Mar 14, 2023Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Mar 1, 2023

Last Update Posted Date

Mar 14, 2023Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

2,000Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
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

Name	Type	Description	Arm Group Labels	Other Names
Biological samplings	Other	Blood and/or skin samples	Patients with Down syndrome or other Intellectual deficiency of genetic origin

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Sophie Durand	Contact	+33156586300		sophie.durand@institutlejeune.org

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Institut Jérôme Lejeune	Recruiting	Paris		75015	France

IPD Sharing Statement Module

Plan to Share IPD

Undecided

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D004314	Down Syndrome
D008607	Intellectual Disability

Ancestor Terms

ID	Term
D019954	Neurobehavioral Manifestations
D009461	Neurologic Manifestations
D009422	Nervous System Diseases
D000015	Abnormalities, Multiple

Browse Leaves

Not provided

Browse Branches

Not provided