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Found 103 clinical trials
Understanding of Psychotic Disorders in Children With 22q11.2DS (PremiCeS22)

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

Accepts healthy volunteers
  • 23 Mar, 2022
  • 1 location
Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome

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 …

genetic disorder
learning disabilities
congenital heart defect
  • 04 Oct, 2022
  • 2 locations
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have gene changes that are linked to autism and other neurodevelopmental disorders. The goal of this study is to improve the clinical care and treatment for these people. Simons Searchlight partners with families to collect data and distribute …

genetic testing
  • 03 Oct, 2021
  • 3 locations
The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS)

The purpose of this study is to investigate the Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors

chromosomal deletion
digeorge syndrome
  • 23 Jan, 2022
  • 1 location
Integrated Diagnosis and Treatment of CKD on Outcomes

Objective: To establish a study cohort and follow up of patients with CKD in our hospital, and evaluate the status of integrated CKD diagnosis and treatment according to guidelines in the real world, as well as the clinical prognosis of patients with different stratification. Methods: By establishing a cohort of …

blood lipids
renal disease
cardiovascular disease
  • 09 May, 2022
  • 1 location
GROWing Up With Rare GENEtic Syndromes

GROWing Up With Rare GENEtic Syndromes: Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive …

rare diseases
genetic disorder
congenital disorders
diagnostic tests
  • 09 Feb, 2021
  • 1 location
Immune Disorder HSCT Protocol

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.

immune disorder
stem cell infusion
immune suppression
treatment regimen
  • 11 May, 2022
  • 1 location
Clinical Observation on Bone Metabolism Induced by Chronic Renal Insufficiency

Patients with chronic renal insufficiency usually develop secondary osteoporosis or bone loss, which is called renal osteodystrophy. Most of the previous studies focused on bone metabolism of patients in late stage of chronic renal insufficiency, especially those with chronic dialysis. In this study, bone metabolism of patients in different stages …

chronic renal insufficiency
renal failure
  • 30 Sep, 2021
  • 4 locations
Clinical and Genetic Markers of Bone Metabolism in Children Under One Year

The study of children under one year of age for molecular genetic testing-VDR (rs1544410, rs2228570), RANKL (rs9594738, rs9594759) with the study of the frequency distribution of alleles and genotypes by polymorphisms, analysis of the relationship of molecular genetic markers with indicators of bone metabolism.

  • 30 May, 2022
  • 1 location
Association Between DXA Results and the Complications, Clinical Courses and Outcomes in Chronic Dialysis Patients

Aims To determine whether BMD and muscle mass were associated with fractures and other adverse events in dialysis patients. To explore the effects of the interactions among FGF23, calcium, phosphate, PTH and vitamin D on low bone mineral density and sacropenia in dialysis patients. Method In this study, the investigators …

fibroblast growth factor 23
bone mineral density
vitamin d
  • 15 May, 2022
  • 1 location