Analyzing genetic markers in patients with intellectual disabilities
Search for Genetic Markers and Biomarkers to Follow Patients With Intellectual Disabilities of Genetic Origin and to Understand Its Origin and Associated Comorbidities
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
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 2000 (estimated) |
| Sex | All |
| Sponsor | Institut Jerome Lejeune Academic / other |
| Locations | 1 site (Paris) |
| Trial ID | NCT05767203 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
Not a fit: Patients who are pregnant, parturient, nursing, or those unable to provide informed consent will not benefit from this study.
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 performed: While this approach is focused on genetic markers in intellectual disabilities, similar studies have shown promise in understanding genetic conditions, suggesting potential for success.
Eligibility criteria
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 this trial is running
Paris
- Institut Jérôme Lejeune — Paris, France (Recruiting)
Study contacts
- Study coordinator: Sophie Durand
- Email: sophie.durand@institutlejeune.org
- Phone: +33156586300
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.