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22q11 Deletion Syndrome clinical trials

View clinical trials related to 22q11 Deletion Syndrome.

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NCT ID: NCT02634671 Active, not recruiting - Schizophrenia Clinical Trials

Perception of Facial Emotions in Schizophrenia and 22q11 Deletion Syndrome

FaSchi22
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 Recruiting - Clinical trials for Prader-Willi Syndrome

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

SMART
Start date: April 2015
Phase: N/A
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.