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NCT Number: NCT05767203

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

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.

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Key information

Conditions

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

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Biological samplings

Other

Blood and/or skin samples

Primary outcomes

  1. Identification of biomarkers in blood

    Time frame: 10 years

    Analysis of biomarkers from blood samples taken during the visit

  2. Identification of biomarkers from skin samples

    Time frame: 10 years

    Analysis of biomarkers from skin samples taken during the visit

Study contacts

Contact information is provided by the study sponsor or research team.

Sophie Durand

CONTACT

[email protected]

+33156586300

Sponsors and collaborators

Lead sponsor

Institut Jerome Lejeune

Other

Registry information

Official study title

Search for Genetic Markers and Biomarkers to Follow Patients With Intellectual Disabilities of Genetic Origin and to Understand Its Origin and Associated Comorbidities

Acronym: BioJeL

Important dates

Study start
2022
Primary completion
2032
Study completion
2032
First posted
Mar 14, 2023
Registry last updated
Mar 14, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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