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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: NCT05924347 Recruiting - Clinical trials for Adolescent Idiopathic Scoliosis

Early Scoliotic Changes in Children at Increased Risk for Scoliosis Development

EARLYBIRD
Start date: June 16, 2023
Phase:
Study type: Observational

Rationale: Despite several decades of research, the exact etiology of adolescent idiopathic scoliosis (AIS) remains unclear. In AIS, spine curvature begins with and progresses during the adolescent growth spurt. Previous studies are only performed on populations with already established scoliosis and normal spinal growth (of bone and IVD tissue) during adolescence has also not been defined. Growth pattern differences may exist between scoliotic and nonscoliotic subjects. Previous studies support the hypothesis that AIS is a spinal deformity that starts with decompensation in the IVD and is linked to sagittal spinal alignment. However, to understand its cause and pathogenic mechanism, the changes to the adolescent spine must be assessed longitudinally during the growth period coinciding with the period prior to and during the onset of AIS. Ideally this should include a cohort who do and do not develop AIS and their assessment must be minimally harmful, without radiation exposure. Certain populations are at increased risk for scoliosis development (i.e. girls with family members with scoliosis and 22q11.2DS patients). New imaging modalities (boneMRI, 3D spinal ultrasound) allow for non-radiographic monitoring of spinal growth.

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: 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.