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ClinicalTrials.gov public records Last synced May 21, 2026, 7:19 PM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Showing 1–24 of 32 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Shprintzen Syndrome Clear all
Completed Not applicable Interventional
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 May 21, 2026, 7:19 PM EDT
Completed Not applicable Interventional Results available
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 May 21, 2026, 7:19 PM EDT
Completed No phase listed Observational Accepts healthy volunteers
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 May 21, 2026, 7:19 PM EDT
Active, not recruiting Phase 2 Interventional
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 May 21, 2026, 7:19 PM EDT
Recruiting No phase listed Observational
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 May 21, 2026, 7:19 PM EDT
Completed Phase 1Phase 2 Interventional Results available
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 May 21, 2026, 7:19 PM EDT
Completed Phase 2 Interventional Results available
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 May 21, 2026, 7:19 PM EDT
Terminated No phase listed Observational
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 May 21, 2026, 7:19 PM EDT
Completed No phase listed Observational
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 May 21, 2026, 7:19 PM EDT
Completed Phase 2 Interventional Results available
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Feb 9, 2025 · Synced May 21, 2026, 7:19 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available
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 May 21, 2026, 7:19 PM EDT
Completed Phase 2 Interventional Results available
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 May 21, 2026, 7:19 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers
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 May 21, 2026, 7:19 PM EDT
Completed No phase listed Observational
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 May 21, 2026, 7:19 PM EDT
Completed No phase listed Observational
View directory record Official record
Conditions
Marfan Syndrome, Turner Syndrome, Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome, FBN1, TGFBR1, TGFBR2, ACTA2 or MYH11 Genetic Mutation, Bicuspid Aortic Valve Without Known Family History, Bicuspid Aortic Valve With Family History, Bicuspid Aortic Valve With Coarctation, Familial Thoracic Aortic Aneurysm and Dissections, Shprintzen-Goldberg Syndrome, Other Aneur/Diss of Thoracic Aorta Not Due to Trauma, <50yo, Other Congenital Heart Disease
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
Not listed
Enrollment
3,706 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2016
U.S. locations
7
States / cities
Honolulu, Hawaii • Baltimore, Maryland • New York, New York + 3 more
Source: ClinicalTrials.gov public record
Updated Dec 19, 2016 · Synced May 21, 2026, 7:19 PM EDT
Completed No phase listed Observational
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Aug 20, 2019 · Synced May 21, 2026, 7:19 PM EDT
Completed Not applicable Interventional
View directory record Official record
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
Source: ClinicalTrials.gov public record
Updated Aug 9, 2015 · Synced May 21, 2026, 7:19 PM EDT
Completed Phase 2 Interventional Results available
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 May 21, 2026, 7:19 PM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers
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 30, 2025 · Synced May 21, 2026, 7:19 PM EDT
Completed No phase listed Observational Accepts healthy volunteers
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 May 21, 2026, 7:19 PM EDT
Terminated Phase 2 Interventional Results available
View directory record Official record
Conditions
Velo-cardio-facial Syndrome, Psychosis
Interventions
Metyrosine, Placebo
Drug
Lead sponsor
Bausch Health Americas, Inc.
Industry
Eligibility
16 Years to 65 Years
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
1
States / cities
Syracuse, New York
Source: ClinicalTrials.gov public record
Updated Nov 21, 2019 · Synced May 21, 2026, 7:19 PM EDT
Recruiting Phase 2 Interventional
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 May 21, 2026, 7:19 PM EDT
Not listed No phase listed Observational
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 May 21, 2026, 7:19 PM EDT
Completed Phase 1 Interventional
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 May 21, 2026, 7:19 PM EDT