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ClinicalTrials.gov public records Last synced Sep 26, 2026, 3:01 AM EDT

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Showing 25–33 of 9 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
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
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
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
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
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
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
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
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