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Showing 1–24 of 33 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Completed No phase listed Observational Accepts healthy volunteers

Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study

NCT00105274
Conditions
DiGeorge Syndrome, Velocardiofacial Syndrome, 22q11.2 Syndrome
Interventions
Not listed
Lead sponsor
National Institute of Mental Health (NIMH)
NIH
Eligibility
18 Years to 50 Years
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2010
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
22Q11.2 Deletion Syndrome
Interventions
ZYN002
Drug
Lead sponsor
Harmony Biosciences Management, Inc.
Industry
Eligibility
4 Years to 17 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
1
States / cities
Greenville, South Carolina
Conditions
Williams Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Shprintzen Syndrome, Smith-Magenis Syndrome, DiGeorge Syndrome, Chromosome Abnormalities
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
0 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Houston, Texas
Completed Phase 2 Interventional Results available

Thymus Transplantation Dose in DiGeorge #932

NCT00576836
Conditions
DiGeorge Anomaly, DiGeorge Syndrome, Complete DiGeorge Anomaly, Complete DiGeorge Syndrome
Interventions
Cultured Thymus Tissue Implantation (CTTI), Cultured Thymus Tissue Implantation with Parathyroid Transplantation
Biological · Other
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Not listed
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2019
U.S. locations
1
States / cities
Durham, North Carolina
Completed Not applicable Interventional

Cognitive Remediation in 22q11DS

NCT01781923
Conditions
22q11.2 Deletion Syndrome, Velo-Cardio-Facial Syndrome
Interventions
Cognitive remediation program, Small group social skills training
Behavioral
Lead sponsor
Duke University
Other
Eligibility
11 Years to 17 Years
Enrollment
38 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2015
U.S. locations
1
States / cities
Durham, North Carolina
Completed No phase listed Observational Accepts healthy volunteers

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

NCT02381457
Conditions
22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18, Trisomy 13, Monosomy X, Sex Chromosome Abnormalities, Cri-du-Chat Syndrome, Angelman Syndrome, Prader-Willi Syndrome, 1p36 Deletion Syndrome
Interventions
Not listed
Lead sponsor
Natera, Inc.
Industry
Eligibility
18 Years to 48 Years · Female only
Enrollment
20,960 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2020
U.S. locations
16
States / cities
San Francisco, California • Camden, New Jersey • Mount Laurel, New Jersey + 10 more
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Parent and Infant Inter(X)Action Intervention (PIXI)

NCT03836300
Conditions
Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome, Duchenne Muscular Dystrophy, Phelan-McDermid Syndrome, Rett Syndrome, Smith Magenis Syndrome, Williams Syndrome, Turner Syndrome, Klinefelter Syndrome, Chromosome 22q11.2 Deletion Syndrome, Tuberous Sclerosis, Down Syndrome
Interventions
Parent-Infant Inter(X)action Intervention (PIXI)
Behavioral
Lead sponsor
RTI International
Other
Eligibility
Up to 99 Years
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2026
U.S. locations
1
States / cities
Research Triangle Park, North Carolina
Conditions
Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD), Neurodevelopmental Disorders and Developmental Abnormalities, Developmental Delay (Disorder), Cerebral Palsy (CP), Cerebral Palsy Hemiparetic Cerebral Palsy Spasticity Gait Disorders, Neurologic Postural Balance Impairment, Cerebral Palsy Infantile, Cerebral Palsy Spastic Hemiplegic, Cerebral Palsy, Dyskinetic, Autism Spectrum Disorder, Autism Spectrum Disorder (ASD, Hypoxic Ischemic Encephalopathy, Hypoxic Ischemic Encephalopathy (HIE), Traumatic Brain Injury (TBI), Sensory Processing Disorder, Chromosomal Abnormalities, Genetic Disorders, Down Syndrome (Trisomy 21), Fragile X Syndrome (FXS), RETT Syndrome With Proven MECP2 Mutation, Williams Syndrome, 22q11.2 Deletion Syndrome, Sensorimotor Integration
Interventions
Not listed
Lead sponsor
Healing Hope International
Other
Eligibility
4 Years to 12 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2036
U.S. locations
1
States / cities
The Woodlands, Texas
Completed Not applicable Interventional Results available

Thymus Transplantation Safety-Efficacy

NCT01220531
Conditions
Complete DiGeorge Anomaly, DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Syndrome
Interventions
Cultured Thymus Tissue
Biological
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Not listed
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2023
U.S. locations
1
States / cities
Durham, North Carolina
Conditions
DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Anomaly, Complete DiGeorge Syndrome
Interventions
Thymus Tissue for Transplantation
Biological
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Not listed
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2019
U.S. locations
1
States / cities
Durham, North Carolina
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Chromosome Deletion, Aneuploidy
Interventions
Blood sampling for Laboratory Developed Test (LDT) analysis
Other
Lead sponsor
Progenity, Inc.
Industry
Eligibility
18 Years to 54 Years · Female only
Enrollment
760 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
8
States / cities
Scottsdale, Arizona • Eunice, Louisiana • Brooklyn, New York + 5 more
Conditions
Pregnant Individuals, Aneuploidy, Down Syndrome (Trisomy 21), 22q11.2 Deletion Syndrome, Trisomy 13, Trisomy 18, Sex Chromosome Abnormalities
Interventions
Not listed
Lead sponsor
BillionToOne Inc.
Industry
Eligibility
Female only
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
6
States / cities
Phoenix, Arizona • West Covina, California • Sarasota, Florida + 3 more
Conditions
DiGeorge Syndrome, Hypoparathyroidism, Complete DiGeorge Syndrome
Interventions
Thymus/Parathyroid Transplantation
Biological
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Up to 24 Months
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2019
U.S. locations
1
States / cities
Durham, North Carolina
Conditions
22q11.2 Deletion Syndrome
Interventions
NFC-1
Drug
Lead sponsor
Aevi Genomic Medicine, LLC, a Cerecor company
Industry
Eligibility
12 Years to 17 Years
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Active, not recruiting Phase 2 Interventional

Immune Disorder HSCT Protocol

NCT01821781
Conditions
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
Interventions
Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
Drug
Lead sponsor
Washington University School of Medicine
Other
Eligibility
Up to 21 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2026
U.S. locations
1
States / cities
St Louis, Missouri
Conditions
Velocardiofacial Syndrome
Interventions
Challenging Our Minds Program
Behavioral
Lead sponsor
State University of New York - Upstate Medical University
Other
Eligibility
12 Years to 16 Years
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2015
U.S. locations
1
States / cities
Syracuse, New York
Conditions
22q11 Deletion Syndrome
Interventions
NB-001, Placebo
Drug · Other
Lead sponsor
Nobias Therapeutics, Inc.
Industry
Eligibility
6 Years to 17 Years
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
3
States / cities
Aurora, Colorado • Philadelphia, Pennsylvania • Seattle, Washington
Conditions
Congenital Disorders
Interventions
Not listed
Lead sponsor
Children's Healthcare of Atlanta
Other
Eligibility
Up to 6 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
1967 – 2006
U.S. locations
1
States / cities
Atlanta, Georgia
Not listed No phase listed Observational Accepts healthy volunteers

Whole Blood Specimen Collection From Pregnant Subjects

NCT02430584
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Perinatal Infections
Interventions
Observational - no intervention
Other
Lead sponsor
Progenity, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2021
U.S. locations
1
States / cities
Chattanooga, Tennessee
Completed Not applicable Interventional Accepts healthy volunteers Results available

Mindfulness Program for Adolescents With 22q11DS

NCT05849441
Conditions
22Q11 Deletion Syndrome
Interventions
Aware Program
Behavioral
Lead sponsor
Innovation Research & Training
Other
Eligibility
12 Years to 19 Years
Enrollment
110 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2024
U.S. locations
1
States / cities
Durham, North Carolina
Active, not recruiting No phase listed Observational

Pathogenetic Basis of Aortopathy and Aortic Valve Disease

NCT03440697
Conditions
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, Vascular Ehlers-Danlos Syndrome, Shprintzen-Goldberg Syndrome, Turner Syndrome, PHACE Syndrome, Autosomal Recessive Cutis Laxa, Congenital Contractural Arachnodactyly, Arterial Tortuosity Syndrome, Bicuspid Aortic Valve-Associated Aortopathy, Bicuspid Aortic Valve, Familial Thoracic Aortic Aneurysm and Aortic Dissection
Interventions
Not listed
Lead sponsor
Yale University
Other
Eligibility
Not listed
Enrollment
3,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2030
U.S. locations
2
States / cities
Atlanta, Georgia • Indianapolis, Indiana
Not listed No phase listed Observational Accepts healthy volunteers

Genetics and Psychopathology in the 22q11 Deletion Syndrome

NCT00161109
Conditions
Chromosome 22q11.2 Deletion Syndrome
Interventions
Not listed
Lead sponsor
UMC Utrecht
Other
Eligibility
8 Years to 20 Years
Enrollment
175 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2002 – 2012
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Recruiting No phase listed Observational

Congenital Athymia Patient Registry

NCT05329935
Conditions
Complete DiGeorge Anomaly, Complete DiGeorge Syndrome, Congenital Athymia
Interventions
Cultured Thymus Tissue
Biological
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
0 Years to 21 Years
Enrollment
75 participants
Timeline
2022 – 2026
U.S. locations
1
States / cities
Durham, North Carolina
Completed No phase listed Observational

Genetic Modifiers for 22q11.2 Syndrome

NCT00916955
Conditions
22q11.2 Deletion Syndrome
Interventions
Observation
Other
Lead sponsor
State University of New York - Upstate Medical University
Other
Eligibility
Not listed
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2015
U.S. locations
1
States / cities
Syracuse, New York