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Intellectual Disability clinical trials

View clinical trials related to Intellectual Disability.

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NCT ID: NCT03722212 Completed - Seizures Clinical Trials

Early Diagnosis of the GLUT1 Deficiency Syndrome With a Blood Based Test

METAglut1
Start date: September 24, 2018
Phase: N/A
Study type: Interventional

The study aims at validating the diagnostic performances of the METAglut1, a blood in vitro diagnostic test, for the simple and early diagnosis of the Glut1 deficiency syndrome (Glut1DS, or De Vivo disease). The blood test will be carried out prospectively on patients presenting with a clinical suspicion of Glut1DS, blindly from the reference strategy, which consists in a lumbar puncture for glycorrhachia measurement, completed by a molecular analysis. The study will be conducted in more than 40 centers in France on up to 3,000 patients for 2 years.

NCT ID: NCT03718923 Recruiting - Clinical trials for Autism Spectrum Disorder

FOXP1 Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing FOXP1-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.

Start date: March 28, 2016
Phase:
Study type: Observational

FOXP1, also known as Forkhead-box Protein P1, is a transcription factor protein belonging to the FOX gene family. Disruptions in the FOXP1 gene cause a phenotype characterized by global developmental delay, speech deficits, mild dysmorphic features, and traits of autism spectrum disorder. This study seeks to characterize FOXP1-related neurodevelopmental disorders using a number of genetic, medical and neuropsychological measures.

NCT ID: NCT03718910 Recruiting - Clinical trials for Autism Spectrum Disorder

DDX3X Syndrome -The Seaver Autism Center for Research and Treatment is Characterizing DDX3X-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.

Start date: May 22, 2018
Phase:
Study type: Observational

DDX3X syndrome is a genetic cause of intellectual disability and other neurologic features including, in some cases, autism. Variants in the DDX3X gene are thought to account for 1-3% of unexplained intellectual disability in females, making it one of the more common causes of intellectual disability.This study seeks to characterize DDX3X-related neurodevelopmental disorders using a number of genetic, medical and neuropsychological measures.

NCT ID: NCT03688594 Recruiting - Clinical trials for Genetic Disorders in Pregnancy

Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities

DEFI
Start date: May 22, 2018
Phase: N/A
Study type: Interventional

The aim of this study is to evaluate performances of a NIPT test based onto the study of the maternal blood to search known genetic mutations already detected in the family and potentially inherited by the fetus. This test will avoid an invasive prenatal diagnosis in those families with a known genetic risk. The performance of this test will be evaluated in terms of sensitivity and specificity with an adapted statistic model. Secondary objectives of the protocol are - To adapt NIPT to small DNA quantity (5-50 ng) - To adapt bioinformatics pipeline to low rate of mosaicism - To develop a tool to quantify the fetal fraction - To evaluate the robustness of the method This test is based onto capture and high throw put sequencing adapted to cell free plasmatic DNA of pregnant women in order to detect point mutation present in her fetus. This approach has been previously described for others clinical applications such as liquid biopsy in cancers but not for NIPT analysis.

NCT ID: NCT03684512 Completed - Physical Activity Clinical Trials

Promotion of Physical Activity in Adolescents With Intellectual and Developmental Disabilities

Start date: January 7, 2019
Phase: N/A
Study type: Interventional

The objective of this study is to compare the effect of two strategies to increase MVPA in adolescents with intellectual and developmental disabilities (IDD): a single level intervention delivered to the adolescent only, and a multi-level intervention delivered to both the adolescent and a parent .

NCT ID: NCT03683706 Completed - Depression Clinical Trials

Learning Through Play (LTP) in My Own Way Plus CBT

Umeed
Start date: March 15, 2019
Phase: N/A
Study type: Interventional

Aim of the study is to evaluate the acceptability and feasibility of LTP in My Own Way Plus with depressed mothers of ID children.

NCT ID: NCT03651245 Terminated - Deafness Clinical Trials

European Alpha-Mannosidosis Participant

EUMAP
Start date: August 20, 2018
Phase:
Study type: Observational

International, multicenter, observational, longitudinal monitoring study to investigate the prevalence of Alpha-Mannosidosis in participants at risk for Alpha-Mannosidosis.

NCT ID: NCT03644797 Not yet recruiting - Clinical trials for Intellectual Disability

Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs

SEESIC
Start date: September 2018
Phase:
Study type: Observational

16p13.11 copy number variations are considered as predisposition factors for neurodevelopmental disorders but can be inherited from normal parents. SEESIC aims at identifying seond molecular events by exome sequencing that could modulate the phenotype and explain familial discrepancies.

NCT ID: NCT03635294 Recruiting - Clinical trials for Rare Intellectual Disabilities

Multi-Omics and IPSCs to Improve Diagnosis of Rare Intellectual Disabilities

MIDRID
Start date: January 9, 2019
Phase: N/A
Study type: Interventional

Background Genetic factors play a major role in intellectual disability (ID) but the underlying cause is not determined in many cases. This proposal is the continuation of the previous interregional project HUGODIMS, the aim of which was to perform whole exome sequencing (WES) in 69 thoroughly selected simplex ID parent-child trios. Thanks to HUGODIMS consortium, the underlying genetic cause of ID was determined or highly suspected in 48 cases (69.5%) and 7 novel ID genes were identified. Hypothesis Investigators hypothesize that an approach combining genomics, transcriptomics, metabolomics and morphological analyses performed on induced pluripotent stem cell (iPSC)-derived neural cells would improve diagnosis of ID. The current proposal is therefore a proof-of concept project aiming at assessing the relevance and effectiveness of this multi-omics approach. Aims and Methods Ten individuals with ID recruited through HUGODIMS, in whom WES have failed to identify pathogenic variants will be included. The workflow is the following: 1. Whole genome sequencing (WGS) (Nantes) of these 10 negative trios. 2. Bio-informatics analyses 3. In 3 WGS negative cases, 3 positive controls bearing distinct mutations in CAMK2a (a novel ID gene identified thanks to HUGODIMS), and 3 healthy negative controls: 1. Derivation of induced pluripotent stem cell (iPSC)-derived neural progenitors (iPSC core facility at Nantes) 2. Targeted and non-targeted metabolomics analyses performed on iPSC-derived neuronal cells (Angers) 3. RNA sequencing performed on the 9 cell lines (Rennes) 4. Morphological analyses of differentiated neuronal cell lines derived from 3 affected individuals and 3 positive controls bearing CMK2a mutations (Tours) 5. Integration and validation of data from multi-omics and morphological approaches Expected results and impact Investigatrors expect that this approach combining multi-omics and iPSC will help to improve diagnosis and understanding of genetic ID of unknown cause

NCT ID: NCT03586375 Completed - Clinical trials for Intellectual Disability

Intensive Support Teams Study

IST-ID
Start date: August 31, 2018
Phase:
Study type: Observational

About 17% of people with ID living in the community have challenging behaviour such as aggression to others or property, self-injury or hyperactivity. There are concerns that adults with ID and challenging behaviour over-use medication, spend large periods of time in hospital, and miss out on living in the community. Hospital care is expensive, and costs are increasing. NHS England has produced draft guidance about Intensive Support Teams (ISTs) proposing that they should be part of all community ID services in England. However, there is currently very little evidence about how effective ISTs are. The people who pay for Health and Social Care services (commissioners) would like more information, and this project aims to provide this. We propose to do a project over 36 months. It will be in two parts. First we will find out about how many, and what type of ISTs exist in England, by asking service managers about their service, their staff, and the work they do. With this information, we will identify different models of ISTs. Then we will look at several services in each model to compare how they work with people with ID and other local services. We will collect data twice over 9 months to see which model(s) work best. We will also carry out interviews with people who use ISTs, family and paid carers, and referrers to ISTs to find out about their experiences of these services, and how happy they are with them. Analysing and putting this data together will tell us about how effective each of the models are at reducing challenging behaviours, how much they cost, and which one service users, their families and people who work in other connected services prefer most. We will tell people about our results at conferences and in academic and services journals. We will ask our group of involved service-users and family carers to guide us, and help us tell other people about the results. We have a team of clinicians and academics who are experts in all aspects of the research, e.g. statistics, ID, service evaluations, and in running ISTs. We will follow research rules and recommendations to make sure we carry out safe, ethical and rigorous research.