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22q11.2 Deletion Syndrome clinical trials

View clinical trials related to 22q11.2 Deletion Syndrome.

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NCT ID: NCT04647500 Completed - Clinical trials for 22q11.2 Deletion Syndrome

Effects of Methylphenidate on Brain and Cognition in 22q11 Deletion Syndrome

Start date: August 26, 2016
Phase: N/A
Study type: Interventional

Chromosome 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition associated with a high risk of psychiatric disorders, including schizophrenia spectrum disorders. This population is characterized by a specific neurocognitive profile and atypical brain development. Methylphenidate is a psychostimulant used in the treatment of attention deficit with/without hyperactivity (ADHD). Although ADHD is one of the most important co-morbidities in 22q11DS, affecting 35-45% of patients, to date only two studies have focused on quantifying the efficacy of this treatment in this population. The objective of this study is to quantify the improvement in cognitive performance as well as the differences in brain connectivity associated with the methylphenidate molecule in a population at risk of cognitive impairment and the development of schizophrenia.

NCT ID: NCT02895906 Completed - Clinical trials for 22q11.2 Deletion Syndrome

Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions

Start date: November 28, 2016
Phase: Phase 1
Study type: Interventional

This is a 5-week, multi-center, open-label, dose optimization trial in subjects aged 12-17 years with 22q11DS who have a diagnosis of anxiety disorder, and/or ADHD, and/or ASD. Approximately 12 subjects will be initiated, dose optimized, and maintained on NFC-1 over a period of 5 weeks.

NCT ID: NCT02460328 Completed - Clinical trials for 22q11.2 Deletion Syndrome

Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome

Start date: February 2015
Phase: N/A
Study type: Observational

- Evaluate about age of resolution in immune defect in 22q11.2 Deletion Syndrome - Incidence of immunodeficiencies in 22q11.2 Deletion Syndrome

NCT ID: NCT01781923 Completed - Clinical trials for 22q11.2 Deletion Syndrome

Cognitive Remediation in 22q11DS

Start date: October 2010
Phase: N/A
Study type: Interventional

The goal of this study is to collect preliminary data on the efficacy of a cognitive remediation program in improving the neurocognitive deficits in children with chromosome 22q11.2 deletion syndrome (22q11DS). This study involves a two part approaching including a computerized cognitive remediation program (CCRP, Posit Science, CA) in combination with a Social Cognitive Training (SCT) program. The computer-based training program has shown encouraging results in improving learning deficits in individuals with schizophrenia and we now seek to adapt them to children with 22q11DS, who have unique needs due to their lower IQ and high risk of psychosis in late adolescence and adulthood. The SCT is a small-group intervention program based on cognitive enhancement therapy, which has been shown to improve social cognition and functionality in adults with schizophrenia. A preliminary study will be performed using this two-pronged approach, to establish the feasibility and gather preliminary data on neurocognition before and after the intervention in these children; these data would enable a larger randomized controlled study to assess the efficacy of this approach.

NCT ID: NCT00916955 Completed - Clinical trials for 22q11.2 Deletion Syndrome

Genetic Modifiers for 22q11.2 Syndrome

VCFS
Start date: March 2008
Phase:
Study type: Observational

The purpose of the project is the determination of how the deletion of DNA from chromosome 22 at the q11.2 band causes the phenotypes observed in velo-cardio-facial syndrome (VCFS). In other words, the purpose remains genotype-to-phenotype matching. Current methods includes the use of whole genome chips and microarray analysis. Blood samples are collected for DNA from every patient who consents from the VCFS Center at Upstate Medical University. They are examined for phenotypic features consistent with our typical clinical evaluation. The information from these examinations will be entered anonymously into a database. Genomic information is then matched to clinical phenotype with appropriate statistical method applied.