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Showing 1–24 of 31 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: 22Q11.2 Deletion Syndrome Clear all
Completed No phase listed Observational

Genetic Modifiers for 22q11.2 Syndrome

NCT00916955
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Oct 19, 2021 · Synced Jul 23, 2026, 1:13 AM EDT
Active, not recruiting Phase 2 Interventional

Immune Disorder HSCT Protocol

NCT01821781
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Feb 18, 2026 · Synced Jul 23, 2026, 1:13 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Mindfulness Program for Adolescents With 22q11DS

NCT05849441
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Apr 28, 2025 · Synced Jul 23, 2026, 1:13 AM EDT
Completed Not applicable Interventional Results available

Thymus Transplantation Safety-Efficacy

NCT01220531
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jan 15, 2025 · Synced Jul 23, 2026, 1:13 AM EDT
Terminated No phase listed Observational

Infection in DiGeorge Following CHD Surgery

NCT00278005
View directory record Official record
Conditions
DiGeorge Syndrome, Congenital Heart Defects
Interventions
Not listed
Lead sponsor
Children's Healthcare of Atlanta
Other
Eligibility
Up to 15 Years
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2008
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated Mar 15, 2012 · Synced Jul 23, 2026, 1:13 AM EDT
Recruiting No phase listed Observational

Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome

NCT00556530
View directory record Official record
Conditions
DiGeorge Syndrome, 22q11.2 Deletion Syndrome
Interventions
Not listed
Lead sponsor
Albert Einstein College of Medicine
Other
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2029
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Jul 21, 2025 · Synced Jul 23, 2026, 1:13 AM EDT
Completed Phase 1 Interventional

Parathyroid and Thymus Transplantation in DiGeorge #931

NCT00566488
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Apr 3, 2022 · Synced Jul 23, 2026, 1:13 AM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

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

NCT03836300
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jul 12, 2026 · Synced Jul 23, 2026, 1:13 AM EDT
Recruiting Phase 2 Interventional

Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)

NCT07284641
View directory record Official record
Conditions
Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder, Immune Dysregulation, DiGeorge Syndrome, STAT 1 Gain of Function, STAT 3 Gain of Function, Hypomorphic RAG1 Deficiency, CD40 Ligand Deficiency, Mendelian Susceptibility to Mycobacterial Disease, GATA2 Associated Immunodeficiency, CD40 Deficiency, Hypomorphic RAG2 Deficiency, Immune Dysregulation Polyendocrinopathy Enteropathy X-Linked Syndrome, Omenn Syndrome, Chronic Granulomatous Disease
Interventions
Hematopoietic stem cell transplant (HSCT)
Biological
Lead sponsor
Paul Szabolcs
Other
Eligibility
5 Years to 40 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2031
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated May 14, 2026 · Synced Jul 23, 2026, 1:13 AM EDT
Completed Phase 1 Interventional

Thymus Transplantation With Immunosuppression

NCT00579709
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Apr 3, 2022 · Synced Jul 23, 2026, 1:13 AM EDT
Completed Phase 2 Interventional Results available

Thymus Transplantation in DiGeorge Syndrome #668

NCT00576407
View directory record Official record
Conditions
DiGeorge Syndrome, Complete Typical DiGeorge Anomaly
Interventions
Cultured Thymus Tissue for Implantation (CTTI)
Biological
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Not listed
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1991 – 2017
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 24, 2022 · Synced Jul 23, 2026, 1:13 AM EDT
Completed Phase 2 Interventional Results available

Open-Label Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With 22q11.2 Deletion Syndrome (INSPIRE)

NCT05149898
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Mar 8, 2026 · Synced Jul 23, 2026, 1:13 AM EDT
Completed Phase 2 Interventional Results available

Thymus Transplantation Dose in DiGeorge #932

NCT00576836
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Mar 24, 2022 · Synced Jul 23, 2026, 1:13 AM EDT
Terminated No phase listed Observational

Prevalence and Clinical Spectrum of the 22q11 Deletion

NCT00267397
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated May 3, 2007 · Synced Jul 23, 2026, 1:13 AM EDT
Completed No phase listed Observational

Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes

NCT00004351
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 23, 2026, 1:13 AM EDT
Recruiting No phase listed Observational

Congenital Athymia Patient Registry

NCT05329935
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Aug 18, 2025 · Synced Jul 23, 2026, 1:13 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Genetics and Psychopathology in the 22q11 Deletion Syndrome

NCT00161109
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Oct 12, 2006 · Synced Jul 23, 2026, 1:13 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Whole Blood Specimen Collection From Pregnant Subjects

NCT02430584
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Sep 16, 2020 · Synced Jul 23, 2026, 1:13 AM EDT
Recruiting No phase listed Observational

The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment

NCT07643896
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jun 11, 2026 · Synced Jul 23, 2026, 1:13 AM EDT
Completed Not applicable Interventional

Computerized Cognitive Skills Training for Adolescents With Velocardiofacial Syndrome

NCT00917189
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Oct 20, 2016 · Synced Jul 23, 2026, 1:13 AM EDT
Not listed No phase listed Observational

Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

NCT00005102
View directory record Official record
Conditions
DiGeorge Syndrome, Shprintzen Syndrome, Chromosome Abnormalities, Abnormalities, Multiple, Conotruncal Cardiac Defects
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1995
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 23, 2026, 1:13 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

NCT02381457
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jan 28, 2021 · Synced Jul 23, 2026, 1:13 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

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

NCT00105274
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Jul 23, 2026, 1:13 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Phase I/II Thymus Transplantation With Immunosuppression #950

NCT00579527
View directory record Official record
Conditions
DiGeorge Anomaly, Complete DiGeorge Anomaly, Complete Atypical DiGeorge Anomaly, Complete DiGeorge Syndrome, Complete Atypical DiGeorge Syndrome
Interventions
Cultured Thymus Tissue for Implantation (CTTI), Cultured Thymus Tissue Implantation and Parental Parathyroid Transplantation, Blood Draw, Rabbit anti-thymocyte globulin, Cyclosporine, Tacrolimus, Methylprednisolone or Prednisolone, Daclizumab, Mycophenolate mofetil
Biological · Other · Procedure + 1 more
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Not listed
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2017
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 24, 2022 · Synced Jul 23, 2026, 1:13 AM EDT