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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Active, not recruiting No phase listed Observational Accepts healthy volunteers

Early Check: Expanded Screening in Newborns

NCT03655223
Conditions
Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy, Hyperinsulinemic Hypoglycemia, Familial 1, Diabetes Mellitus, Adrenoleukodystrophy, Neonatal, Medium-chain Acyl-CoA Dehydrogenase Deficiency, Very Long Chain Acyl Coa Dehydrogenase Deficiency, Beta-ketothiolase Deficiency, Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency, Primary Hyperoxaluria Type 1, Congenital Bile Acid Synthesis Defect Type 2, Pyridoxine-Dependent Epilepsy, Hereditary Fructose Intolerance, Hypophosphatasia, Hyperargininemia, Mucopolysaccharidosis Type 6, Argininosuccinic Aciduria, Citrullinemia, Type I, Wilson Disease, Maple Syrup Urine Disease, Type 1A, Maple Syrup Urine Disease, Type 1B, Biotinidase Deficiency, Neonatal Severe Primary Hyperparathyroidism, Intrinsic Factor Deficiency, Usher Syndrome Type 1D/F Digenic (Diagnosis), Cystic Fibrosis, Stickler Syndrome Type 2, Stickler Syndrome Type 1, Alport Syndrome, Autosomal Recessive, Alport Syndrome, X-Linked, Carbamoyl Phosphate Synthetase I Deficiency Disease, Carnitine Palmitoyl Transferase 1A Deficiency, Carnitine Palmitoyltransferase II Deficiency, Cystinosis, Chronic Granulomatous Disease, Cerebrotendinous Xanthomatoses, Maple Syrup Urine Disease, Type 2, Severe Combined Immunodeficiency Due to DCLRE1C Deficiency, Thyroid Dyshormonogenesis 6, Thyroid Dyshormonogenesis 5, Supravalvar Aortic Stenosis, Factor X Deficiency, Hemophilia A, Hemophilia B, Tyrosinemia, Type I, Fructose 1,6 Bisphosphatase Deficiency, Glycogen Storage Disease Type I, G6PD Deficiency, Glycogen Storage Disease II, Galactokinase Deficiency, Mucopolysaccharidosis Type IV A, Galactosemias, Guanidinoacetate Methyltransferase Deficiency, Agat Deficiency, Glutaryl-CoA Dehydrogenase Deficiency, Gtp Cyclohydrolase I Deficiency, Hyperinsulinism-Hyperammonemia Syndrome, Primary Hyperoxaluria Type 2, 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Mitochondrial Trifunctional Protein Deficiency, Sickle Cell Disease, Beta-Thalassemia, Holocarboxylase Synthetase Deficiency, 3-Hydroxy-3-Methylglutaric Aciduria, Primary Hyperoxaluria Type 3, Hermansky-Pudlak Syndrome 1, Hermansky-Pudlak Syndrome 4, Apparent Mineralocorticoid Excess, HSDB, CBAS1, Mucopolysaccharidosis Type 2, Mucopolysaccharidosis Type 1, Severe Combined Immunodeficiency, X Linked, Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiency, Diabetes Mellitus, Permanent Neonatal, Isovaleric Acidemia, Severe Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder), Jervell and Lange-Nielsen Syndrome 2, Hyperinsulinemic Hypoglycemia, Familial, 2, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Jervell and Lange-Nielsen Syndrome 1, Lysosomal Acid Lipase Deficiency, CblF, 3-Methylcrotonyl CoA Carboxylase 1 Deficiency, 3-Methylcrotonyl CoA Carboxylase 2 Deficiency, Waardenburg Syndrome Type 2A, Methylmalonic Aciduria cblA Type, Methylmalonic Aciduria cblB Type, Methylmalonic Aciduria and Homocystinuria Type cblC, MAHCD, Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency, Congenital Disorder of Glycosylation Type 1B, Mthfr Deficiency, Methylcobalamin Deficiency Type Cbl G (Disorder), Methylcobalamin Deficiency Type cblE, Usher Syndrome, Type 1B, N-acetylglutamate Synthase Deficiency, Ornithine Transcarbamylase Deficiency, Phenylketonurias, Waardenburg Syndrome Type 1, Congenital Hypothyroidism, Propionic Acidemia, Usher Syndrome, Type 1F, Pancreatic Agenesis 1, Hereditary Hypophosphatemic Rickets, Glycogen Storage Disease IXB, Glycogen Storage Disease IXC, MOWS, Epilepsy, Early-Onset, Vitamin B6-Dependent, Pyridoxal Phosphate-Responsive Seizures, Pituitary Hormone Deficiency, Combined, 1, Ptsd, Dihydropteridine Reductase Deficiency, Severe Combined Immunodeficiency Due to RAG1 Deficiency, Severe Combined Immunodeficiency Due to RAG2 Deficiency, Retinoblastoma, Multiple Endocrine Neoplasia Type 2B, Pseudohypoaldosteronism, Type I, Liddle Syndrome, Biotin-Responsive Basal Ganglia Disease, SCD, DIAR1, GSD1C, Acrodermatitis Enteropathica, Thyroid Dyshormonogenesis 1, Riboflavin Transporter Deficiency, Waardenburg Syndrome, Type 2E, SRD, Congenital Lipoid Adrenal Hyperplasia Due to STAR Deficiency, Barth Syndrome, Adrenocorticotropic Hormone Deficiency, Transcobalamin II Deficiency, Thyroid Dyshormonogenesis 3, Segawa Syndrome, Autosomal Recessive, Autosomal Recessive Nonsyndromic Hearing Loss, Thyroid Dyshormonogenesis 2A, Congenital Isolated Thyroid Stimulating Hormone Deficiency, Hypothyroidism Due to TSH Receptor Mutations, Usher Syndrome Type 1C, Usher Syndrome Type 1G (Diagnosis), Von Willebrand Disease, Type 3, Combined Immunodeficiency Due to ZAP70 Deficiency, Adenine Phosphoribosyltransferase Deficiency, Metachromatic Leukodystrophy, Canavan Disease, Menkes Disease, Carbonic Anhydrase VA Deficiency, Developmental and Epileptic Encephalopathy 2, 17 Alpha-Hydroxylase Deficiency, Smith-Lemli-Opitz Syndrome, Krabbe Disease, Glutathione Synthetase Deficiency, Mucopolysaccharidosis Type 7, Rett Syndrome, Molybdenum Cofactor Deficiency, Type A, Niemann-Pick Disease, Type C1, Niemann-Pick Disease Type C2, Ornithine Aminotransferase Deficiency, 3-Phosphoglycerate Dehydrogenase Deficiency, Leber Congenital Amaurosis 2, Dravet Syndrome, Mucopolysaccharidosis Type 3 A, Ornithine Translocase Deficiency, Carnitine-acylcarnitine Translocase Deficiency, Glucose Transporter Type 1 Deficiency Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type A, Pitt Hopkins Syndrome, Tuberous Sclerosis 1, Tuberous Sclerosis 2, Ataxia With Isolated Vitamin E Deficiency, Angelman Syndrome, Prader-Willi Syndrome, Homocystinuria, Permanent Neonatal Diabetes Mellitus, Transient Neonatal Diabetes Mellitus, Factor VII Deficiency, Glycogen Storage Disease Type IXA1, Glycogen Storage Disease, Type IXA2, Glycogen Storage Disease IC, Glycogen Storage Disease Type IB, Central Hypoventilation Syndrome With or Without Hirschsprung Disease
Interventions
Confirmatory Testing
Diagnostic Test
Lead sponsor
RTI International
Other
Eligibility
1 Day to 31 Days
Enrollment
30,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2026
U.S. locations
1
States / cities
Research Triangle Park, North Carolina
Terminated Not applicable Interventional Results available

Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation

NCT01319851
Conditions
Thalassemia, Sickle Cell Disease, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome, Chronic-granulomatous Disease, Severe Congenital Neutropenia, Leukocyte Adhesion Deficiency, Schwachman-Diamond Syndrome, Diamond-Blackfan Anemia, Fanconi Anemia, Dyskeratosis-congenita, Chediak-Higashi Syndrome, Severe Aplastic Anemia
Interventions
Alefacept
Drug
Lead sponsor
Emory University
Other
Eligibility
Up to 21 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
1
States / cities
Atlanta, Georgia
Conditions
Atherosclerosis, Chronic Granulomatous Disease (CGD)
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years and older
Enrollment
156 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2020
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Hurler Syndrome, Fanconi Anemia, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome, Chronic Granulomatous Disease, Severe Congenital Neutropenia, Leukocyte Adhesion Deficiency, Shwachman-Diamond Syndrome, Diamond-Blackfan Anemia, Dyskeratosis-congenita, Chediak-Higashi Syndrome, Severe Aplastic Anemia, Thalassemia Major, Hemophagocytic Lymphohistiocytosis, Sickle Cell Disease
Interventions
Abatacept
Drug
Lead sponsor
Emory University
Other
Eligibility
Up to 21 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2019
U.S. locations
1
States / cities
Atlanta, Georgia
Conditions
Chronic Granulomatous Diseases (CGD) and Liver Lesions
Interventions
Cool-tip RF Ablation System
Device
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years to 75 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2020
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Chronic Granulomatous Disease
Interventions
Sirolimus, Donor peripheral blood stem cells., Cyclophosphamide post transplant, Total body 200cGy, Cyclophosphamide, Fludarabine, Busulfan
Drug · Biological · Radiation
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
2 Years to 65 Years
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Chediak Higashi Syndrome, Chronic Granulomatous Disease, Job's Syndrome, Leukocyte Disorder
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
Not listed
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2005
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Chronic Granulomatous Disease
Interventions
Stem cell transplantation
Procedure
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
Not listed
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2004
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Chronic Granulomatous Disease, CGD
Interventions
JSP191
Biological
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
4 Years to 65 Years
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2036
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Bronchogenic Carcinoma, Chronic Granulomatous Disease, Job's Syndrome, Mycobacterium Infection, Wegener's Granulomatosis
Interventions
virtual bronchoscopy
Device
Lead sponsor
National Institutes of Health Clinical Center (CC)
NIH
Eligibility
Not listed
Enrollment
120 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1995 – 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Chronic Granulomatous Disease
Interventions
interferon-gamma
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1992 – 2001
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
HIV, Cancer, Chronic Granulomatous Disease, Dock 8 Deficiency
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
272 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2024
U.S. locations
9
States / cities
Orange, California • Washington D.C., District of Columbia • Tampa, Florida + 6 more
Conditions
Chronic Granulomatous Disease, Communicable Disease
Interventions
Gene Therapy Method for CGD, Isolex 300i Magnetic Cell Selector
Drug · Device
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
5 Years and older
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1995 – 2010
U.S. locations
1
States / cities
Bethesda, Maryland
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
Primary Immunodeficiencies, APECED, CGD, Wiskott-Aldrich Syndrome, SCID
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month and older
Enrollment
716 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2023
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Mycoses
Interventions
itraconazole
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1991 – 2001
U.S. locations
1
States / cities
Bethesda, Maryland
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
Granuloma, Granulomatous Disease, Chronic, Leukocyte Disease, Genetic Disease, X-Linked, Genetic Disease, Inborn
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years to 70 Years
Enrollment
850 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1994
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Chronic Granulomatous Disease, Inflammatory Gastrointestinal Disease, Inflammatory Skin Disease, Inflammatory Lung Disease
Interventions
XELJANZ (tofacitinib)
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years to 99 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Chronic Granulomatous Disease (CGD)
Interventions
Not listed
Lead sponsor
Ensoma
Industry
Eligibility
Not listed
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
50
States / cities
Montgomery, Alabama • Phoenix, Arizona • Little Rock, Arkansas + 47 more
Conditions
p47, Autosomal Recessive, Chronic Granulomatous Disease
Interventions
Cryopreserved Autologous CD34+ cells transduced with pCCLCHIM-p47
Biological
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
3 Years to 65 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Chronic Granulomatous Disease (CGD)
Interventions
Busulfan, Tocilizumab, Eltrombopag, Sirolimus, pCCLChimGp91lentiviral vector containing the human gp91 phox (CYBB) gene
Drug · Other
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
3 Years to 60 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2029
U.S. locations
1
States / cities
Bethesda, Maryland
Terminated Phase 1Phase 2 Interventional Accepts healthy volunteers Results available

Infliximab to Treat Crohn'S-like Inflammatory Bowel Disease in Chronic Granulomatous Disease

NCT00325078
Conditions
Chronic Granulomatous Disease, Crohn'S-like IBD, Inflammatory Bowel Disease (IBD)
Interventions
Infliximab
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
10 Years and older
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2006 – 2012
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Acute Leukemia in Remission, Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia, Acute Myeloid Leukemia With FLT3/ITD Mutation, Acute Myeloid Leukemia With Gene Mutations, Aplastic Anemia, B-Cell Non-Hodgkin Lymphoma, CD40 Ligand Deficiency, Chronic Granulomatous Disease, Chronic Leukemia in Remission, Chronic Lymphocytic Leukemia, Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Chronic Myelomonocytic Leukemia, Chronic Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Congenital Amegakaryocytic Thrombocytopenia, Congenital Neutropenia, Congenital Pure Red Cell Aplasia, Glanzmann Thrombasthenia, Immunodeficiency Syndrome, Myelodysplastic Syndrome, Myelofibrosis, Myeloproliferative Neoplasm, Paroxysmal Nocturnal Hemoglobinuria, Plasma Cell Myeloma, Polycythemia Vera, Recurrent Non-Hodgkin Lymphoma, Refractory Non-Hodgkin Lymphoma, Secondary Acute Myeloid Leukemia, Secondary Myelodysplastic Syndrome, Severe Aplastic Anemia, Shwachman-Diamond Syndrome, Sickle Cell Disease, T-Cell Non-Hodgkin Lymphoma, Thalassemia, Waldenstrom Macroglobulinemia, Wiskott-Aldrich Syndrome
Interventions
Cyclophosphamide, Fludarabine Phosphate, Laboratory Biomarker Analysis, Peripheral Blood Stem Cell Transplantation, Total-Body Irradiation
Drug · Other · Procedure + 1 more
Lead sponsor
Roswell Park Cancer Institute
Other
Eligibility
1 Year to 75 Years
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2023
U.S. locations
1
States / cities
Buffalo, New York