- Conditions
- Mucopolysaccharidosis, Hurler Syndrome, Hunter Syndrome, Maroteaux-Lamy Syndrome, Sly Syndrome, Alpha Mannosidosis, Fucosidosis, Aspartylglucosaminuria, Adrenoleukodystrophy (ALD), Krabbe Disease, Metachromatic Leukodystrophy (MLD), Sphingolipidoses, Peroxisomal Disorders
- Interventions
- Campath-1H, Cyclophosphamide, Busulfan, Allogeneic stem cell transplantation, Cyclosporine A, Mycophenolate Mofetil
- Drug · Procedure
- Lead sponsor
- Masonic Cancer Center, University of Minnesota
- Other
- Eligibility
- Up to 21 Years
- Enrollment
- 46 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2009 – 2017
- U.S. locations
- 1
- States / cities
- Minneapolis, Minnesota
Search Results
Search by objective public record fields.
Search by query text, NCT ID, condition, intervention, sponsor, city, state, recruitment status, phase, study type, healthy volunteer eligibility, sex, or age. Results come from ClinicalTrials.gov. When the live registry is unavailable, a clearly labeled stored copy may be shown.
These results were retrieved from the live ClinicalTrials.gov registry. Filters and sort order apply to this result list.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Showing 73–96
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matching trials from the live ClinicalTrials.gov search.
- 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
- Achondroplasia
- Interventions
- Infigratinib
- Drug
- Lead sponsor
- QED Therapeutics, a BridgeBio company
- Industry
- Eligibility
- 3 Years to 18 Years
- Enrollment
- 300 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2032
- U.S. locations
- 8
- States / cities
- Oakland, California • Aurora, Colorado • Wilmington, Delaware + 5 more
- Conditions
- Achondroplasia
- Interventions
- Infigratinib 0.25 mg/kg/day, Placebo Comparator 0.25 mg/kg/day
- Drug
- Lead sponsor
- QED Therapeutics, a BridgeBio company
- Industry
- Eligibility
- 3 Years to 17 Years
- Enrollment
- 114 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2023 – 2025
- U.S. locations
- 7
- States / cities
- San Francisco, California • Aurora, Colorado • Baltimore, Maryland + 4 more
- Conditions
- Hunter Syndrome
- Interventions
- Neurobehavioral testing, Visual and auditory assessments
- Behavioral · Other
- Lead sponsor
- Shire
- Industry
- Eligibility
- 32 Months to 18 Years · Male only
- Enrollment
- 33 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2009 – 2011
- U.S. locations
- 1
- States / cities
- Chapel Hill, North Carolina
- Conditions
- Mucopolysaccharidosis II
- Interventions
- No Intervention
- Other
- Lead sponsor
- Denali Therapeutics Inc.
- Industry
- Eligibility
- Up to 30 Years
- Enrollment
- 18 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2024
- U.S. locations
- 3
- States / cities
- Oakland, California • Chapel Hill, North Carolina • Pittsburgh, Pennsylvania
- Conditions
- Irritable Bowel Syndrome
- Interventions
- curcumin, placebo
- Dietary Supplement
- Lead sponsor
- Kaiser Permanente
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 17 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2008 – 2009
- U.S. locations
- 1
- States / cities
- Los Angeles, California
- Conditions
- Enchondromatosis
- Interventions
- Not listed
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Eligibility
- 2 Years to 100 Years
- Enrollment
- 100 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2030
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Mucopolysaccharidosis I, Hurler's Syndrome, Hurler-Scheie Syndrome, Scheie's Syndrome
- Interventions
- laronidase
- Drug
- Lead sponsor
- Genzyme, a Sanofi Company
- Industry
- Eligibility
- Not listed
- Enrollment
- 25 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2004 – 2007
- U.S. locations
- 3
- States / cities
- Los Angles, California • Hartford, Connecticut • Milwaukee, Wisconsin
- Conditions
- Mucopolysaccharidoses, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI
- Interventions
- Dried blood spot test for MPS
- Other
- Lead sponsor
- National MPS Society
- Other
- Eligibility
- 6 Months to 18 Years
- Enrollment
- 3,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2011 – 2014
- U.S. locations
- 2
- States / cities
- New Brunswick, New Jersey • New York, New York
- Conditions
- MPS II, Mucopolysaccharidosis II, Hunter Syndrome
- Interventions
- Not listed
- Lead sponsor
- Duke University
- Other
- Eligibility
- Not listed
- Enrollment
- 6 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2024
- U.S. locations
- 1
- States / cities
- Durham, North Carolina
- Conditions
- Digestive Disease, Gut Health
- Interventions
- Probiotic, Placebo
- Dietary Supplement · Other
- Lead sponsor
- Synbiotic Health
- Industry
- Eligibility
- 18 Years to 75 Years
- Enrollment
- 92 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2026
- U.S. locations
- 1
- States / cities
- Los Angeles, California
- Conditions
- Adrenoleukodystrophy, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Tay Sachs Disease, Sandhoffs Disease, Wolman Disease, I-Cell Disease, Sanfilippo Syndrome, GM1 Gangliosidosis
- Interventions
- Clofarabine, Total body Irradiation, Melphalan, Hematopoietic Stem Cell Transplantation, Alemtuzumab, mycophenylate mofetil, Cyclosporine A, Hydroxyurea
- Drug · Procedure · Biological + 1 more
- Lead sponsor
- Masonic Cancer Center, University of Minnesota
- Other
- Eligibility
- Up to 70 Years
- Enrollment
- 38 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2006 – 2014
- U.S. locations
- 1
- States / cities
- Minneapolis, Minnesota
- Conditions
- Mucopolysaccharidosis II
- Interventions
- tividenofusp alfa
- Drug
- Lead sponsor
- Denali Therapeutics Inc.
- Industry
- Eligibility
- Up to 18 Years · Male only
- Enrollment
- 47 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2031
- U.S. locations
- 4
- States / cities
- Oakland, California • Chicago, Illinois • Chapel Hill, North Carolina + 1 more
- Conditions
- MPS VI
- Interventions
- Not listed
- Lead sponsor
- BioMarin Pharmaceutical
- Industry
- Eligibility
- Not listed
- Enrollment
- 59 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2011 – 2013
- U.S. locations
- 1
- States / cities
- Oakland, California
- Conditions
- Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI
- Interventions
- Enzyme testing
- Other
- Lead sponsor
- Children's Hospitals and Clinics of Minnesota
- Other
- Eligibility
- Up to 21 Years
- Enrollment
- 22 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2012 – 2015
- U.S. locations
- 2
- States / cities
- Minneapolis, Minnesota • Saint Paul, Minnesota
- Conditions
- Mucopolysaccharidosis I, Cognitive Decline
- Interventions
- Intrathecal recombinant human alpha iduronidase
- Drug
- Lead sponsor
- agnes chen
- Other
- Eligibility
- 6 Years and older
- Enrollment
- 6 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2020
- U.S. locations
- 1
- States / cities
- Torrance, California
- Conditions
- Morquio A Syndrome, Mucopolysaccharidosis IV A
- Interventions
- Not listed
- Lead sponsor
- Nadia Ali, PhD
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 12 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2018
- U.S. locations
- 1
- States / cities
- Decatur, Georgia
- Conditions
- Mucopolysaccharidosis VI
- Interventions
- Placebo, N-acetylgalactosamine 4-sulfatase
- Drug
- Lead sponsor
- BioMarin Pharmaceutical
- Industry
- Eligibility
- 7 Years and older
- Enrollment
- 39 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2003 – 2004
- U.S. locations
- 1
- States / cities
- Novato, California
- Conditions
- Mucopolysaccharidosis Disorders, Hurler Syndrome, Hunter Syndrome, Maroteaux Lamy Syndrome, Sly Syndrome, Alpha-Mannosidosis, Fucosidosis, Aspartylglucosaminuria, Glycoprotein Metabolic Disorders, Sphingolipidoses, Recessive Leukodystrophies, Globoid Cell Leukodystrophy, Metachromatic Leukodystrophy, Niemann-Pick B, Niemann-Pick C Subtype 2, Sphingomyelin Deficiency, Peroxisomal Disorders, Adrenoleukodystrophy With Cerebral Involvement, Zellweger Syndrome, Neonatal Adrenoleukodystrophy, Infantile Refsum Disease, Acyl-CoA Oxidase Deficiency, D-Bifunctional Enzyme Deficiency, Multifunctional Enzyme Deficiency, Alpha-methylacyl-CoA Racmase Deficiency, Mitochondrial Neurogastrointestingal Encephalopathy, Severe Osteopetrosis, Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation), Inherited Metabolic Disorders
- Interventions
- Stem Cell Transplantation, IMD Preparative Regimen, Osteopetrosis Only Preparative Regimen, Osteopetrosis Haploidentical Only Preparative Regimen, cALD SR-A (Standard-Risk, Regimen A), cALD SR-B (Standard-Risk, Regimen B), cALD HR-D (High-Risk, Regimen C), cALD HR-D (High-Risk, Regimen D)
- Biological · Drug
- Lead sponsor
- Masonic Cancer Center, University of Minnesota
- Other
- Eligibility
- Up to 55 Years
- Enrollment
- 149 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2029
- U.S. locations
- 1
- States / cities
- Minneapolis, Minnesota
- Conditions
- Mucopolysaccharidosis VI
- Interventions
- N-acetylgalactosamine 4-sulfatase
- Drug
- Lead sponsor
- BioMarin Pharmaceutical
- Industry
- Eligibility
- Not listed
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2000 – 2005
- U.S. locations
- 1
- States / cities
- Novato, California
- Conditions
- Sanfilippo Syndrome, Mucopolysaccharidosis (MPS)
- Interventions
- HGT-1410
- Drug
- Lead sponsor
- Shire
- Industry
- Eligibility
- 12 Months to 48 Months
- Enrollment
- 17 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2015 – 2019
- U.S. locations
- 2
- States / cities
- Minneapolis, Minnesota • Chapel Hill, North Carolina
- Conditions
- Mucopolysaccharidosis I
- Interventions
- JR-171 (lepunafusp alfa)
- Drug
- Lead sponsor
- JCR Pharmaceuticals Co., Ltd.
- Industry
- Eligibility
- 0 Years and older
- Enrollment
- 18 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2022
- U.S. locations
- 1
- States / cities
- Oakland, California
- Conditions
- IBS (Irritable Bowel Syndrome), Bloating, Abdominal Pain, Gut Health
- Interventions
- FODMAP-targeting digestive enzyme blend, Placebo
- Dietary Supplement · Other
- Lead sponsor
- Kiwi Health Inc
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 150 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2026
- U.S. locations
- 1
- States / cities
- Los Angeles, California