Analyzing genetic markers in patients with intellectual disabilities
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
Run by Institut Jerome Lejeune · NCT05767203 · Data updated 2026-11-12
This study is trying to learn more about the genetic causes of intellectual disabilities, like Down Syndrome, by looking at blood and skin samples from patients to find better ways to diagnose and treat these conditions.
Quick facts
| Study type | Interventional |
|---|---|
| Sex | All |
| Enrollment | 2000 (estimated) |
| Sponsor | Institut Jerome Lejeune Academic / other |
| Locations | 1 site (Paris) |
| Status | Recruiting |
| Started | September 1, 2022 |
| Main results expected | September 1, 2032 |
| Study ends | December 31, 2032 |
| Registry record updated | March 14, 2023 |
| Trial ID | NCT05767203 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are patients of all ages diagnosed with an intellectual disability of genetic origin who are attending the Institut Jérôme Lejeune.
✕Probably not a fit
Patients who are pregnant, parturient, nursing, or those unable to provide informed consent will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study aims to analyze genetic and biological markers in patients diagnosed with intellectual disabilities of genetic origin, such as Down Syndrome. Blood and skin samples will be collected from participants at the Institut Jérôme Lejeune, where researchers will identify and study the mechanisms of modified genes and the cellular pathways involved in these disorders. The goal is to enhance understanding of the complications and pathologies associated with genetic intellectual disabilities. This research could lead to improved diagnostic and therapeutic strategies for affected individuals.
Why it matters
Potential benefit: If successful, this study could provide insights that lead to better management and treatment options for patients with intellectual disabilities of genetic origin.
How similar studies have gone: While this approach is focused on genetic markers in intellectual disabilities, similar studies have shown promise in understanding genetic conditions, suggesting potential for success.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
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Institut Jérôme Lejeune
Paris, France Recruiting
Study contacts
- Study coordinator: Sophie Durand
- Email: sophie.durand@institutlejeune.org
- Phone: +33156586300
Similar studies
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.