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Last Updated: 09/18/2022

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Genetic Modifiers of 22q11.2 Deletion Syndrome

Summary: 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.

A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime

Summary: This study hypothesizes that a reduced intensity immunosuppressive preparative regimen will establish engraftment of donor hematopoietic cells with acceptable early and delayed toxicity in patients with immune function disorders. A regimen that maximizes host immune suppression is expected to reduce graft rejection and optimize donor cell engraftment.

Effects of Modulation of the Dopaminergic System Using Methylphenidate on Memory and Executive Processes in Individuals With 22q11.2 Deletion Syndrome

Summary: 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 A...

A Randomized, Placebo-Controlled Crossover Trial to Assess the Safety and Efficacy of NB-001 in Children and Adolescents With 22q11 Deletion Syndrome

Summary: This is a Phase 2, randomized, placebo-controlled crossover trial to assess the safety and efficacy of NB-001 in children and adolescents with 22q11DS that manifest commonly associated neuropsychiatric conditions.

Piloting an Early Intervention Program for Infants With Rare Neurogenetic Disorders

Summary: The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of neurogenetic disorders that leave individuals at risk for developmental delays or intellectual and developmental disabilities. The proposed project will capitalize and expand upon existing empirically based interventions designed to imp...

Study of Arithmetic Abilities of Children With 22q11.2 Deletion Syndrome Aged From 4 to 11 Years Old

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

Characterize the Behavioral Prodromes of Psychotic Disorders in Children With 22q11.2DS Aged From 4 to 13 Years Old

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

First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome - ReFaPo02

Summary: Combined first-trimester screening represents the gold standard of risk assessment for the presence of trisomy 21, 18, and 13. The concept is based on the age risk, the measurement of fetal nuchal translucency (NT), and the determination of serum markers free beta-hCG and PAPP-A in maternal blood.~In recent years it has been shown that the risk assessment can be improved by combining in-depth ultr...

Pilot Study: Self-Face Recognition After Face Transplantation

Summary: The purpose of the proposed study is to use functional magnetic resonance imaging (fMRI) to investigate how a change in facial appearance is initially represented in brain circuits and then alters over time, as the new face becomes recognized as me.~Investigators will try to identify areas of the brain responsible for processing and storing information about self-facial recognition; Examine how th...
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Last Updated: 09/18/2022