Genetic Markers and Biomarkers in Patients With Intellectual Disabilities of Genetic Origin
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Biological samplings.
- Who it may be relevant to
- Registry conditions: Down Syndrome, Intellectual Disability. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
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
Overview
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.
Interventions
- Other Biological samplings
Blood and/or skin samples
Primary outcome measures
- Identification of biomarkers in blood [Time frame: 10 years]
- Identification of biomarkers from skin samples [Time frame: 10 years]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Basic science
Study locations
France · 1 center
- Institut Jérôme Lejeune — Paris
Identifiers
NCT: NCT05767203 · BioJeL