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Conditions: AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of, IMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11, APRT, OMIM *102600, Adenine Phosphoribosyltransferase Deficiency, HPRT1, OMIM *308000 Lesch-Nyhan Disease, XDH, OMIM *607633, Xanthinuria Type 1, SLC2A9, OMIM *606142 Hypouricemia, SLC22A12, OMIM *607096 Hypouricemia, PRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth Disease, PRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase Superactivity, AMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar Hypoplasia, ITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35, ADSL, OMIM *608222, Adenylosuccinate Lyase Deficiency, PNP, OMIM *164050, Nucleoside Phosphorylase Deficiency, ADA2, OMIM *607575,Sneddon Syndrome; VAIHS, CAD, *1140120, Developmental and Epileptic Encephalopathy, UPB1, OMIM *606673, Beta-ureidopropionase Deficiency, DPYS, OMIM *613326, Dihydropyrimidinase Deficiency, DPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase Deficiency, DHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis), UMPS, OMIM *613891, Orotic Aciduria, NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency, UNG, OMIM *191525, Hyper-IgM Syndrome 5, AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2, Purine-Pyrimidine Metabolism, Metabolic Disease
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 1 Month to 100 Years
Enrollment: 999 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2099
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Immunoproliferative Disorder
Interventions: Bacteriophage, rhuCD40L, KLH; Drug
Lead sponsor: National Institute of Allergy and Infectious Diseases (NIAID); NIH
Eligibility: Not listed
Enrollment: 5 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1999 – 2003
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: X-Linked Agammaglobulinemia, X-Linked Hyper IgM Syndrome, Wiskott-Aldrich Syndrome, Leukocyte Adhesion Deficiency Syndrome
Interventions: Not listed
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 0 Years and older
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 1995
U.S. locations: 1
States / cities: Seattle, Washington

Conditions: IgM and IgG in Blood
Interventions: Rapid antibody test; Other
Lead sponsor: Texas Cardiac Arrhythmia Research Foundation; Other
Eligibility: 16 Years to 85 Years
Enrollment: 500 participants
Timeline: 2021 – 2022
U.S. locations: 1
States / cities: Austin, Texas

Conditions: Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias, Inflammatory Conditions, Systemic Juvenile Idiopathic Arthritis (sJIA), Juvenile Rheumatoid Arthritis (JRA)
Interventions: Hydroxyurea, Alemtuzumab, Fludarabine, Melphalan, Thiotepa; Drug
Lead sponsor: Paul Szabolcs; Other
Eligibility: 2 Months to 55 Years
Enrollment: 100 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2027
U.S. locations: 1
States / cities: Pittsburgh, Pennsylvania

Conditions: Severe Combined Immunodeficiency (SCID), Immunodeficiency With Predominant T-cell Defect, Unspecified, Severe Chronic Neutropenia, Chronic Granulomatous Disease (CGD), Hyper IgE Syndromes, Hyper IgM Deficiencies, Wiskott-Aldrich Syndrome, Mendelian Susceptibility to Mycobacterial Disease, Common Variable Immune Deficiency (CVID)
Interventions: CD3/CD19 negative allogeneic hematopoietic stem cells; Biological
Lead sponsor: Paul Szabolcs; Other
Eligibility: 5 Years to 45 Years
Enrollment: 16 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2027
U.S. locations: 1
States / cities: Pittsburgh, Pennsylvania

Conditions: Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias, Inflammatory Conditions
Interventions: data collection; Drug
Lead sponsor: Paul Szabolcs; Other
Eligibility: 2 Months to 60 Years
Enrollment: 50 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2028
U.S. locations: 1
States / cities: Pittsburgh, Pennsylvania

Conditions: Immunologic Deficiency Syndromes
Interventions: Immune Globulin Intravenous (Human) Omr-IgG-am IGIV; Drug
Lead sponsor: FFF Enterprises; Industry
Eligibility: 3 Years to 75 Years
Enrollment: 57 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2006 – 2009
U.S. locations: 8
States / cities: Los Angeles, California • Centennial, Colorado • North Palm Beach, Florida + 5 more

Conditions: Acute Bacterial Infections, Acute Viral Infections
Interventions: Not listed
Lead sponsor: The Plasma Source; Industry
Eligibility: 18 Years to 70 Years
Enrollment: 300 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2012 – 2013
U.S. locations: 1
States / cities: Southampton, Pennsylvania

Conditions: Primary Immune Deficiency Disorders, Common Variable Immunodeficiency, X-linked Agammaglobulinemia, Hyper-IgM Syndrome, Wiskott-Aldrich Syndrome
Interventions: Gammaplex; Biological
Lead sponsor: Bio Products Laboratory; Other
Eligibility: 2 Years to 16 Years
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2014
U.S. locations: 8
States / cities: Irvine, California • Los Angeles, California • Centennial, Colorado + 5 more

Conditions: Melanoma, Non-small Cell Lung Cancer, Breast Cancer, Gastric Cancer, Renal Cell Carcinoma, Ovarian Cancer, Cholangiocarcinoma, Bladder Urothelial Carcinoma, Pancreatic Adenocarcinoma, Colorectal Cancer, Esophageal Cancer, Hepatic Cancer, Head and Neck Cancer, Primary Peritoneal Cancer, Fallopian Tube Cancer, Other Solid Tumors, Diffuse Large B-cell Lymphoma (DLBCL), Mantle Cell Lymphoma, Indolent B-cell Lymphomas, Non-Hodgkin Lymphoma, Follicular Lymphoma, Lymphoplasmacytic Lymphoma, Waldenstrom's Disease, Marginal Zone Lymphoma, Mucosa Associated Lymphoid Tissue, Small Lymphocytic Leukemia
Interventions: CDX-1140, CDX-301, pembrolizumab, Chemotherapy; Drug
Lead sponsor: Celldex Therapeutics; Industry
Eligibility: 18 Years and older
Enrollment: 132 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2022
U.S. locations: 11
States / cities: Scottsdale, Arizona • Atlanta, Georgia • Augusta, Georgia + 7 more

Conditions: Hemophagocytic Lymphohistiocytosis, Chronic Active Epstein-Barr Virus Infection, Chronic Granulomatous Disease, HIGM-1, Leukocyte Adhesion Deficiency, IPEX
Interventions: Hematopoietic Stem Cell Transplant; Biological
Lead sponsor: Medical College of Wisconsin; Other
Eligibility: 4 Months to 45 Years
Enrollment: 47 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2016
U.S. locations: 19
States / cities: Birmingham, Alabama • Washington D.C., District of Columbia • Atlanta, Georgia + 16 more

Conditions: Primary Immune Deficiency Disease
Interventions: Flebogamma 5% DIF; Biological
Lead sponsor: Instituto Grifols, S.A.; Industry
Eligibility: 2 Years to 16 Years
Enrollment: 24 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2011
U.S. locations: 7
States / cities: St. Petersburg, Florida • Atlanta, Georgia • Chicago, Illinois + 4 more

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: Immunologic Deficiency Syndromes, Chediak-Higashi Syndrome, Common Variable Immunodeficiency, Graft Versus Host Disease, X-Linked Lymphoproliferative Syndrome, Familial Erythrophagocytic Lymphohistiocytosis, Hemophagocytic Lymphohistiocytosis, X-linked Agammaglobulinemia, Wiskott-Aldrich Syndrome, Chronic Granulomatous Disease, X-linked Hyper IgM Syndrome, Severe Combined Immunodeficiency, Leukocyte Adhesion Deficiency Syndrome, Virus-Associated Hemophagocytic Syndrome
Interventions: anti-thymocyte globulin, busulfan, cyclophosphamide, cyclosporine, etoposide, methotrexate, methylprednisolone, prednisone, Allogeneic Bone Marrow Transplantation; Drug · Procedure
Lead sponsor: Fairview University Medical Center; Other
Eligibility: Up to 35 Years
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2000 – 2002
U.S. locations: 1
States / cities: Minneapolis, Minnesota

Conditions: SCID, Omenn's Syndrome, Reticular Dysgenesis, Wiskott-Aldrich Syndrome, Bare Lymphocyte Syndrome, Common Variable Immunodeficiency, Chronic Granulomatous Disease, CD40 Ligand Deficiency, Hyper IgM Syndrome, X-linked Lymphoproliferative Disease, Hemophagocytic Lymphohistiocytosis, Griscelli Syndrome, Chediak-Higashi Syndrome, Langerhan's Cell Histiocytosis
Interventions: Alemtuzumab 0.3 mg, Cyclophosphamide, Busulfan, Stem Cell Transplantation, Fludarabine phosphate 40 mg, Melphalan, Alemtuzumab 0.2 mg, Fludarabine phosphate 30 mg, MESNA; Drug · Biological
Lead sponsor: Masonic Cancer Center, University of Minnesota; Other
Eligibility: Up to 50 Years
Enrollment: 57 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2026
U.S. locations: 1
States / cities: Minneapolis, Minnesota

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: Primary Immune Deficiency Disorders, Common Variable Immunodeficiency, X-linked Agammaglobulinaemia, Hyper-IgM Syndrome
Interventions: Gammaplex (5%), Gammaplex 10; Biological
Lead sponsor: Bio Products Laboratory; Other
Eligibility: 2 Years to 55 Years
Enrollment: 48 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2016
U.S. locations: 14
States / cities: Chandler, Arizona • Long Beach, California • Los Angeles, California + 10 more

Conditions: Wiskott- Aldrich Syndrome, ADA Deficient SCID
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 3 Years and older
Enrollment: 266 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2000
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Primary Immunodeficiency, Common Variable Hypogammaglobulinemia, X-linked Hypogammaglobulinemia, Hypogammaglobulinemia, Immunodeficiency With Hyper-IgM, Wiskott-Aldrich Syndrome
Interventions: Gammaplex (Intravenous immunoglobulin); Biological
Lead sponsor: Bio Products Laboratory; Other
Eligibility: 3 Years and older
Enrollment: 50 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2006 – 2007
U.S. locations: 7
States / cities: North Palm Beach, Florida • Atlanta, Georgia • Chicago, Illinois + 3 more

Conditions: Hyper-IgM Syndrome, Ectodermal Dysplasia
Interventions: Not listed
Lead sponsor: National Institute of Allergy and Infectious Diseases (NIAID); NIH
Eligibility: Not listed
Enrollment: 119 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2005 – 2013
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Primary Immune Deficiency Disorders, Common Variable Immunodeficiency, X-linked Agammaglobulinaemia, Hyperimmunoglobulin M Syndrome
Interventions: Subgam; Biological
Lead sponsor: Bio Products Laboratory; Other
Eligibility: 2 Years to 75 Years
Enrollment: 38 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2017
U.S. locations: 16
States / cities: Chandler, Arizona • Irvine, California • San Diego, California + 12 more

Conditions: Sickle Cell Disease, Thalassemia, Anemia, Granuloma, Wiskott-Aldrich Syndrome, Chediak Higashi Syndrome, Osteopetrosis, Neutropenia, Thrombocytopenia, Hurler Disease, Niemann-Pick Disease, Fucosidosis
Interventions: Hematopoietic stem cell transplantation; Procedure
Lead sponsor: Children's Hospital Los Angeles; Other
Eligibility: Up to 21 Years
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2015
U.S. locations: 1
States / cities: Los Angeles, California

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A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

Study of Immune Responses and Safety of Recombinant Human CD40 Ligand in Patients With X-Linked Hyper-IgM Syndrome

Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders

Immune Response Following COVID-19 Vaccination

Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT

Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases

Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC

A Clinical Study of Intravenous Immunoglobulin

300 Antibody Diagnostic Test Kit

A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency

A Study of CDX-1140 (CD40) as Monotherapy or in Combination in Patients With Advanced Malignancies

Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204)

Safety and Efficacy Study of Flebogamma 5% DIF IGIV in Pediatric Subjects

Immune Disorder HSCT Protocol

Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies

Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies

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

Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases

Molecular and Clinical Studies of Primary Immunodeficiency Diseases

Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases.

Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States

Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases

Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells