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Showing 1–24 of 42 matching trials from the live ClinicalTrials.gov search.
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Conditions
Hemophagocytic Lymphohistiocytosis, X-Linked Lymphoproliferative Disorders, Chediak-Higashi Syndrome, Griscelli Syndrome, Immunologic Diseases, Langerhans-Cell Histiocytosis, Hematologic Diseases
Interventions
Stem Cell Transplant, Myeloablative conditioning regimen
Procedure · Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 55 Years
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2015
U.S. locations
1
States / cities
Minneapolis, Minnesota
Conditions
Hermansky-Pudlak Syndrome (HPS)
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 115 Years
Enrollment
600 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1995
U.S. locations
1
States / cities
Bethesda, Maryland
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
Completed Not applicable Interventional Accepts healthy volunteers Results available

Nurses Taking On Readiness Measures - Mercer County, New Jersey

NCT05455580
Conditions
Disaster, Vulnerable Populations
Interventions
Nurses Taking On Readiness Measures (N-TORM)
Behavioral
Lead sponsor
Hunter College of City University of New York
Other
Eligibility
18 Years and older
Enrollment
31 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022
U.S. locations
1
States / cities
New York, New York
Conditions
Albinism
Interventions
Levodopa, Placebo
Drug
Lead sponsor
University of Minnesota
Other
Eligibility
3 Years to 60 Years
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2014
U.S. locations
1
States / cities
Minneapolis, Minnesota
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
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
Recruiting No phase listed Observational Accepts healthy volunteers

Allergy and Immunology Natural History Study

NCT05584488
Conditions
Immune Deficiency, Immune Dysregulation Disorder, Allergic Inflammation
Interventions
Not listed
Lead sponsor
Columbia University
Other
Eligibility
Up to 99 Years
Enrollment
10,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2027
U.S. locations
1
States / cities
New York, New York
Conditions
Pulmonary Fibrosis, Healthy Volunteers, Hermansky-Pudlak Syndrome (HPS)
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
18 Years to 115 Years
Enrollment
315 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2004
U.S. locations
1
States / cities
Bethesda, Maryland
Completed No phase listed Observational

23andMe IPF Research Study

NCT05028894
Conditions
Idiopathic Pulmonary Fibrosis
Interventions
No intervention
Other
Lead sponsor
23andMe, Inc.
Industry
Eligibility
18 Years and older
Enrollment
690 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
1
States / cities
Sunnyvale, California
Conditions
Albinism, Inborn Errors of Metabolism, Oculocutaneous Albinism, Platelet Storage Pool Deficiency, Pulmonary Fibrosis
Interventions
Pirfenidone, Placebo
Drug
Lead sponsor
William Gahl, M.D.
NIH
Eligibility
18 Years and older
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2016
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Unresectable or Metastatic Malignant Gastrointestinal Stromal Tumor (GIST)
Interventions
Imatinib mesylate
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
148 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2013
U.S. locations
3
States / cities
Boston, Massachusetts • Portland, Oregon • Philadelphia, Pennsylvania
Conditions
Ocular Albinism (OA), Oculocutaneous Albinism (OCA)
Interventions
Lutein plus Zeaxanthin, Placebo
Dietary Supplement
Lead sponsor
Johns Hopkins University
Other
Eligibility
12 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2018
U.S. locations
1
States / cities
Baltimore, Maryland
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
Terminated Phase 2 Interventional Results available

Vision Response to Dopamine Replacement

NCT01663935
Conditions
Albinism, Oculocutaneous Albinism
Interventions
Levodopa/carbidopa
Drug
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
3 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2018
U.S. locations
1
States / cities
Madison, Wisconsin
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
Mastocytosis
Interventions
Collection of blood and bone marrow
Other
Lead sponsor
University of Michigan
Other
Eligibility
Not listed
Enrollment
136 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2009
U.S. locations
1
States / cities
Ann Arbor, Michigan
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
Blood Coagulation Disorders
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
2 Years to 80 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2011
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Gastrointestinal Stromal Tumors, Small-cell Lung Cancer, Adenoid Cystic Carcinoma, Uveal Melanoma, Neuroendocrine Tumors, Chromophobe Renal Cell Carcinoma, Clear Cell Renal Cell Carcinoma
Interventions
NN3201
Drug
Lead sponsor
Novelty Nobility, Inc.
Industry
Eligibility
18 Years and older
Enrollment
67 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
5
States / cities
Ann Arbor, Michigan • Cleveland, Ohio • Portland, Oregon + 2 more
Conditions
Inherited Ophthalmic Diseases, Hypopigmentation Disorder, Corneal Dystrophy, Blue-cone Monochromacy, Best Disease, Aniridia, Albinism
Interventions
Not listed
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
1 Day to 120 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2054
U.S. locations
2
States / cities
Bethesda, Maryland
Conditions
Chediak-Higashi Syndrome, Graft Versus Host Disease, X-Linked Lymphoproliferative Syndrome, Familial Erythrophagocytic Lymphohistiocytosis, Hemophagocytic Lymphohistiocytosis, Virus-Associated Hemophagocytic Syndrome
Interventions
anti-thymocyte globulin, busulfan, cyclophosphamide, cyclosporine, etoposide, filgrastim, methotrexate, allogeneic hematopoietic stem cell transplantation
Drug · Procedure
Lead sponsor
Fairview University Medical Center
Other
Eligibility
0 Years to 55 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
Minneapolis, Minnesota
Recruiting No phase listed Observational

Study of Chediak-Higashi Syndrome

NCT00005917
Conditions
Chediak-Higashi Syndrome
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Month to 70 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2002
U.S. locations
1
States / cities
Bethesda, Maryland