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Showing 1–24 of 42 matching trials from the live ClinicalTrials.gov search.
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
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
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
Completed Not applicable Interventional Accepts healthy volunteers

ACEs Referral From PED

NCT06574633
Conditions
Adverse Childhood Experiences
Interventions
In-person therapy, Telehealth therapy
Behavioral
Lead sponsor
Emory University
Other
Eligibility
12 Years to 17 Years
Enrollment
62 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2025
U.S. locations
4
States / cities
Atlanta, Georgia
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
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
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
Completed Phase 1Phase 2 Interventional Results available

Nitisinone for Type 1B Oculocutaneous Albinism

NCT01838655
Conditions
Albinism, Vision Loss
Interventions
Nitisinone
Drug
Lead sponsor
National Eye Institute (NEI)
NIH
Eligibility
18 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Indolent Systemic Mastocytosis
Interventions
Masitinib, Placebo, Best Supportive Care
Drug · Other
Lead sponsor
AB Science
Industry
Eligibility
18 Years to 75 Years
Enrollment
135 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2015
U.S. locations
2
States / cities
Sacramento, California • Houston, Texas
Conditions
Cannabinoid Hyperemesis Syndrome
Interventions
Haloperidol
Drug
Lead sponsor
University of Illinois at Chicago
Other
Eligibility
18 Years and older
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2028
U.S. locations
1
States / cities
Chicago, Illinois
Conditions
Oculocutaneous Albinism
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Year to 80 Years
Enrollment
206 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
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
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
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
Myelofibrosis, Gaucher Disease, Pulmonary Fibrosis, Hermansky-Pudlak Syndrome (HPS), Cancer
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
2 Years to 80 Years
Enrollment
88 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2019
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
Malignant Neoplasm
Interventions
ponatinib hydrochloride, laboratory biomarker analysis
Drug · Other
Lead sponsor
Sameek Roychowdhury
Other
Eligibility
18 Years and older
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2022
U.S. locations
2
States / cities
Ann Arbor, Michigan • Columbus, Ohio
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
Conditions
Hemophagocytic Lymphohistiocytosis, X-Linked Lymphoproliferative Disorders, Chediak-Higashi Syndrome, Griscelli Syndrome, Immunologic Deficiency Syndromes, Langerhans-Cell Histiocytosis
Interventions
Stem Cell Transplant, Fludarabine, Melphalan, Anti-thymocyte globulin (ATG), Campath 1H, Cyclosporin A, Mycophenolate mofetil, Intravenous immunoglobulin (IVIG)
Procedure · Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 35 Years
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2014
U.S. locations
1
States / cities
Minneapolis, Minnesota
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
Hermanski-Pudlak Syndrome, Colitis, Cytokines, Lymphocytes, Drug Evaluation
Interventions
Mesalamine, Infliximab, Corticosteroids, 6-Mercaptopurine, Tacrolimus, Adalimumab
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 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
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
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