Clinical Trials Logo

22q11.2 Deletion Syndrome clinical trials

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

Filter by:

NCT ID: NCT04647500 Recruiting - 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: NCT04639960 Recruiting - Clinical trials for 22q11.2 Deletion Syndrome

Neuroprotective Effects of Risperdal on Brain and Cognition in 22q11 Deletion Syndrome

Start date: September 29, 2017
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 particular neurocognitive profile and atypical brain development. Risperidone is a second-generation antipsychotic, inhibitor of dopaminergic receptors. Used in the treatment of psychosis, risperidone is frequently prescribed in 22q11DS, for example to treat a psychotic episode. Research on an animal model of 22q11DS (LgDel+/- mice) shows that administering an antipsychotic for 12 days during a critical period of brain development (adolescence) prevents deleterious neuronal changes and improves behavioral performance in mice. The aim of this study is therefore to replicate the results found in mice and to identify a long-term neuroprotective effect. This study is inspired on the one hand by the families who share with us the difficulties of individuals affected by 22q11DS on a daily basis, but also by the encouraging results of studies conducted on mice.

NCT ID: NCT04639388 Recruiting - Clinical trials for 22q11.2 Deletion Syndrome

Understanding of Psychotic Disorders in Children With 22q11.2DS

PremiCeS22
Start date: November 13, 2020
Phase: N/A
Study type: Interventional

The study PremiCeS22 will investigate the prodromal signals at the onset of psychotic disorders of children with 22q11.2 deletion syndrome

NCT ID: NCT04373226 Recruiting - Clinical trials for 22q11.2 Deletion Syndrome

Arithmetic Abilities in Children With 22q11.2DS

ARITH22
Start date: September 16, 2020
Phase: N/A
Study type: Interventional

The study ARITH22 will investigate the role of visuo-spatial attention on arithmetic abilities of children with 22q11.2 deletion syndrome.

NCT ID: NCT03284060 Terminated - Clinical trials for 22q11.2 Deletion Syndrome

Social Cognition Training and Cognitive Remediation

RCKID
Start date: October 11, 2017
Phase: N/A
Study type: Interventional

Social cognition refers to mental operations that enable people to perceive, interpret constantly changing social informations. These processes allow people to rapidly, effortlessly and flexibly perceive and interpret rapidly-changing social information, and respond appropriately to social stimuli. Besides, this ability gives meaning to the actions of others. Impairments in this field may largely underlie social dysfunctions and reduce adaptive skills. Moreover, social cognitive disabilities contribute more or less directly to behavioral disturbances and psychiatric symptoms The "RC KID" program involves a variety of exercises in a paper and/or pencil or a computerized format or role playing and a strategy coaching approach. "RC KID" targets the emotion recognition and social interaction. A little cartoon character (a pirate), is supposed to be very friendly and kind toward children. The pirate will accompany them throughout the program for an effective and positive reinforcement. The main goal of "RC KID" is to adjust to children's difficulties in daily life. Moreover, since the cognitive remediation benefit is complex to apply in daily life, the program is based on a metacognitive strategy. After a complete neuropsychological assessment and a psychoeducational session (with the child and the parents), 16 1-h-sessions of cognitive remediation with the therapist are proposed. Each session is composed of three parts: (1) computerized tasks focusing on specific emotion recognition components (20 min). RC KID is composed of 2 modules : Emotion recognition and social interaction. These tasks contain photo or video. (2) pen and paper or role playing tasks focusing on the same processes (20 min) (3) a proposal of a home-based task (during 20 min). Weekly, home tasks are proposed to the child and analyzed with the parents and the therapist. Indeed, home exercises are useful to promote the transfer of strategies to daily life and their subsequent automation. The heterogeneity of cognitive deficits in 22q11.2 deletion necessitates an individualized cognitive remediation therapy. In this regard, "RC KID" seems to be a promising tool.

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 Recruiting - Clinical trials for 22q11.2 Deletion Syndrome

Genetic Modifiers for 22q11.2 Syndrome

VCFS
Start date: March 2008
Phase: N/A
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.

NCT ID: NCT00556530 Recruiting - DiGeorge Syndrome Clinical Trials

Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome

Start date: July 2016
Phase:
Study type: Observational

22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people. This study will analyze DNA from people with 22q11.2 deletion syndrome to identify genetic variations that may affect the severity of the disorder.