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22q11 Deletion Syndrome clinical trials

View clinical trials related to 22q11 Deletion Syndrome.

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NCT ID: NCT04463316 Recruiting - Clinical trials for Prader-Willi Syndrome

GROWing Up With Rare GENEtic Syndromes

Start date: October 1, 2018
Study type: Observational

Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists. Increased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes. Medical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines. The aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including: 1. comorbidities 2. medical and their impact on quality of life 3. medication use 4. the need for adaption of medication dose according to each syndrome Methods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.

NCT ID: NCT02890472 Completed - Clinical trials for 22q11 Deletion Syndrome Di George Syndrome

Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study

Start date: October 1, 2017
Study type: Observational

22q11.2 microdeletion seems the prenatally under-diagnosed . Indeed , there is a mismatch between the series on the heart rate of 22q11.2 antenatal 84% against 30% in the adult series despite a perinatal mortality of 16% suggesting opportunities for improvement in the prenatal diagnosis of fetus with a microdeletion 22q11.2 , especially without heart disease

NCT ID: NCT02634671 Completed - Schizophrenia Clinical Trials

Perception of Facial Emotions in Schizophrenia and 22q11 Deletion Syndrome

Start date: November 2015
Phase: N/A
Study type: Interventional

Background: The present study aims to identify the mechanisms underlying the deficit in facial emotion recognition reported both in schizophrenia and the 22q11.2 deletion syndrome, and thus, reveal a distinction between the two disorders. Indeed, despite the clinical overlap between the two syndromes, some of the symptoms appear to be specific to only one of them. In particular, the disturbance of visual functions is specifically observed in the 22q11.2DS. Hence, the difficulties in facial emotion recognition in schizophrenia and in the 22q11.DS are likely accounted by different cognitive impairments. Investigating which mechanisms are disturbed would allow a specialized support for patients. Our main hypothesis is that the deficit in facial emotion recognition is more related to visual impairments in the 22q11.2DS than in schizophrenia. This hypothesis will be tested in two groups of patients (22q11.2DS and schizophrenic patients) and a control group (healthy subjects) using an experimental paradigm based on electroencephalography (EEG). A second aim of this study is to determine whether the severity of the two disorders' symptoms is correlated with the cerebral response to facial expressions. To answer this question, a set of clinical and neuropsychological tests will be conducted for each patient.

NCT ID: NCT02381457 Completed - Clinical trials for Prader-Willi Syndrome

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

Start date: April 2015
Study type: Observational [Patient Registry]

This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten thousand women who present clinically and elect Panorama microdeletion and aneuploidy screening as part of their routine care. The primary objective is to evaluate the performance of Single Nucleotide Polymorphism (SNP)-based Non Invasive Prenatal Testing (NIPT) for 22q11.2 microdeletion (DiGeorge syndrome) in this large cohort of pregnant women. This will be done by performing a review of perinatal medical records and obtaining biospecimens after birth to perform genetic diagnostic testing for 22q11.2 deletion. Results from the follow-up specimens will be compared to those obtained by the Panorama screening test to determine test performance. Specific test performance parameters will include: PPV, specificity, and sensitivity.

NCT ID: NCT02070211 Not yet recruiting - Clinical trials for 22q11 Deletion Syndrome

Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome.

Start date: June 2014
Phase: Phase 2/Phase 3
Study type: Interventional

The purpose of the present trial is to investigate the effects of omega-3 PUFAs in individuals aged 12-26 years with 22q11DS at ultra-high risk for developing a first episode of psychosis.

NCT ID: NCT00161109 Recruiting - Clinical trials for Chromosome 22q11.2 Deletion Syndrome

Genetics and Psychopathology in the 22q11 Deletion Syndrome

Start date: October 2002
Phase: N/A
Study type: Observational

The purposes of this study are to: 1. study the nature and longitudinal course of psychiatric symptoms in children with the 22q11.2 deletion syndrome and 2. identify genes that contribute to the occurrence of these symptoms.