Active clinical trials for "Intellectual Disability"

This project is framed within the "Complutense University of Madrid (UCM)-Group 5 Against Stigma Chair", of the Faculty of Psychology. The main objective of the Chair is to fight the stigma that affects people with mental disorders, disabilities, vulnerability or extreme social exclusion. For this purpose, the Chair is developing research studies, training programs, cultural activities and awareness campaigns, proof of this is the recent publication of the Guide to good practices against stigma, which, although it takes as a reference to the people with a diagnosis of mental disorder, it is expected to be generalizable to other groups. Stigma is associated with the condition of being different, and affects any person belonging to a minority or vulnerable group, being one of the main obstacles to full participation in different social, political and cultural institutions. The fight against stigma is included in important international treaties, such as the United Nations Convention on the Rights of Persons with Disabilities or the European recommendations regarding the fight against social exclusion of people with mental health problems. This study will focus on three groups of special social sensitivity, with clear stigmatizing conditions: people with mental health problems, people in a homeless situation and people with intellectual disabilities.

DDX3X related disorder is mainly characterised by developmental delay (DD) and intellectual disability (ID), ranging from mild to severe, and neuroimaging abnormalities. The aims of this study are first to better delineate the clinical phenotype, as well as the neuropsychological profile and, second, to study the epigenetic signature in a cohort of individuals with DDX3X pathogenic variants. This work will conduct to a MD thesis of a clinical resident geneticist in France. Physician that will participate will fill an Excel sheet regarding the clinical and neuropsychological assessment. The investigators will be also happy to have a DNA sample with a minimum 0.5ug of peripheral blood genomic DNA. The investigators will gather the DNA in Montpellier genetic lab (Dr Mouna BARAT) and send the batch to the Dr Sadikovic' lab. Between 2018 and 2020, the investigators have already recruited data from individuals with DDX3X pathogenic variants from several European and Asian genetic centres

Currently, for a patient with intellectual disability without a recognizable syndrome (most cases), the way to diagnosis is often long, tedious and expensive because different approaches are used one after the other to identify structural variants (duplications, deletions and other) and point mutations (sequencing of one or more candidate genes). The development of high-throughput sequencing techniques (next generation sequencing: NGS) has drastically increased the detection of point mutations offering the possibility to test a large number of genes simultaneously. NGS also shows a huge potential in detecting structural variants. The objective of this research is to assess the sensitivity of a simultaneous detection of point mutations and structural variants by NGS approaches. This would bring together in a single step the equivalent of performing an array-Comparative genomic hybridization (CGH) analysis plus performing a targeted sequencing of candidate genes. Investigators will compare two approaches for this simultaneous detection: a targeted enrichment of candidate genes coding regions using probes covering these regions associated with a backbone of genomic probes, an approach that could be implemented immediately in diagnostic at the hospital, and a whole genome sequencing (WGS), that is currently a too expensive tool for routine diagnosis but that should be the approach used in the future. Investigators will compare these two approaches to the traditional one: CGH array + WGS. The implementation of a "one step" strategy to detect both types of mutations (punctual and structural) would accelerate and improve the access of patients to a molecular diagnosis.

Intellectual disability (ID) occurs in 2 to 3 % of the general population but the cause is identified only in 30 to 60% of cases. The purpose of this study is to indentify genes involved in ID with new genetics tools (SNP-arrays, next generation sequencing...) and establish genotype-phenotype correlations.