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22q11.2 Deletion Syndrome

DiGeorge sequenceShprintzen syndromeDiGeorge SyndromeVelocardiofacial Syndrome (VCFS)Conotruncal Anomaly Face Syndrome (CTAF)
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Clinical Trials

This information is provided by ClinicalTrials.gov

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Displaying 1-7 of 7 results.
First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome
Status: Recruiting
Last Changed: Apr 17, 2019
First Received: Dec 18, 2017
Disease(s): Pregnancy
Intervention(s): cfDNA screening
Locations: University Hospital Tuebingen, Department of Women's Health, Tuebingen, Germany
The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
Status: Recruiting
Last Changed: Jul 26, 2019
First Received: Oct 08, 2008
Disease(s): Velocardiofacial Syndrome, Williams Syndrome, Fragile X Syndrome
Intervention(s): methylphenidate, fluoxetin, risperidone
Locations: Schneider Children's Mediac Center of Israel, Petach-Tikva, Israel
Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11.2 Microdeletional Syndrom
Status: Not yet recruiting
Last Changed: Jan 07, 2020
First Received: Oct 28, 2019
Disease(s): Di George Syndrome
Intervention(s): Molecular analyses
Locations: Hopital Vinatier, Lyon, Rhone Alpes, France
Thymus Transplantation Safety-Efficacy
Status: Available
Last Changed: Jul 19, 2019
First Received: Oct 14, 2010
Disease(s): Complete DiGeorge Anomaly, DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Syndrome
Intervention(s): Thymus Tissue for Transplantation, Blood Draw, Rabbit anti-thymocyte globulin, Cyclosporine, Tacrolimus, Methylprednisolone or Prednisolone, Basiliximab, Mycophenolate mofetil
Locations: Duke University Medical Center, Durham, North Carolina, United States
Whole Blood Specimen Collection From Pregnant Subjects
Status: Recruiting
Last Changed: Aug 21, 2019
First Received: Apr 30, 2015
Disease(s): Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Perinatal Infections
Intervention(s): Observational - no intervention
Locations: Regional Obstetrical Consultants, Chattanooga, Tennessee, United States
Immune Disorder HSCT Protocol
Status: Recruiting
Last Changed: Mar 26, 2019
First Received: Apr 01, 2013
Disease(s): Immune Deficiency Disorders, Severe Combined Immunodeficiency, Chronic Granulomatous Disease, X-linked Agammaglobulinemia, Wiskott-Aldrich Syndrome, Hyper-IgM, DiGeorge Syndrome, Chediak-Higashi Syndrome, Common Variable Immune Deficiency, Immune Dysregulatory Disorders, Hemophagocytic Lymphohistiocytosis, IPEX, Autoimmune Lymphoproliferative Syndrome, X-linked Lymphoproliferative Syndrome
Intervention(s): Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
Locations: Washington University, Saint Louis, Missouri, United States
Methodist Heathcare, San Antonio, Texas, United States
Pathogenetic Basis of Aortopathy and Aortic Valve Disease
Status: Recruiting
Last Changed: Aug 21, 2019
First Received: Feb 22, 2018
Disease(s): Aortopathies, Thoracic Aortic Aneurysm, Aortic Valve Disease, Thoracic Aortic Disease, Thoracic Aortic Dissection, Thoracic Aortic Rupture, Ascending Aortic Disease, Descending Aortic Disease, Ascending Aortic Aneurysm, Descending Aortic Aneurysm, Marfan Syndrome, Loeys-Dietz Syndrome, Ehlers-Danlos Syndrome, Shprintzen-Goldberg Syndrome, Turner Syndrome, PHACE Syndrome, Autosomal Recessive Cutis Laxa, Congenital Contractural Arachnodactyly, Arterial Tortuosity Syndrome
Locations: IU School of Medicine, Indianapolis, Indiana, United States