Search | Clinical Trials Finder

Conditions: Niemann-Pick Disease, Type C
Interventions: arimoclomol, Placebo; Drug
Lead sponsor: ZevraDenmark; Industry
Eligibility: 2 Years to 18 Years
Enrollment: 50 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2024
U.S. locations: 2
States / cities: Oakland, California • Rochester, Minnesota

Conditions: Hurler Syndrome (MPS I), Hurler-Scheie Syndrome, Hunter Syndrome (MPS II), Sanfilippo Syndrome (MPS III), Krabbe Disease (Globoid Leukodystrophy), Metachromatic Leukodystrophy (MLD), Adrenoleukodystrophy (ALD and AMN), Sandhoff Disease, Tay Sachs Disease, Pelizaeus Merzbacher (PMD), Niemann-Pick Disease, Alpha-mannosidosis
Interventions: hematopoietic stem cell infusion; Biological
Lead sponsor: Talaris Therapeutics Inc.; Industry
Eligibility: Not listed
Enrollment: 3 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2016
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Neimann-Pick Disease
Interventions: Vorinostat; Drug
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 18 Years to 60 Years
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2016
U.S. locations: 1
States / cities: Bethesda, Maryland

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: Niemann Pick Diseases
Interventions: OGT918; Drug
Lead sponsor: National Eye Institute (NEI); NIH
Eligibility: 12 Years and older
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2002 – 2007
U.S. locations: 2
States / cities: Bethesda, Maryland • New York, New York

Conditions: Lysosomal Acid Lipase Deficiency
Interventions: Not listed
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: 2 Years and older
Enrollment: 640 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2015
U.S. locations: 15
States / cities: Birmingham, Alabama • Phoenix, Arizona • Los Angeles, California + 12 more

Conditions: Lysosomal Storage Disorders
Interventions: Not listed
Lead sponsor: O & O Alpan LLC; Other
Eligibility: 1 Day to 100 Years
Enrollment: 80 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2013 – 2022
U.S. locations: 1
States / cities: Fairfax, Virginia

Conditions: Lysosomal Storage Disorders, Gaucher Disease, Fabry Disease, Pompe Disease, Niemann-Pick Disease
Interventions: Not listed
Lead sponsor: O & O Alpan LLC; Other
Eligibility: 1 Day to 100 Years
Enrollment: 20,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2014 – 2018
U.S. locations: 1
States / cities: Fairfax, Virginia

Conditions: Adrenoleukodystrophy, Batten Disease, Mucopolysaccharidosis II, Leukodystrophy, Globoid Cell, Leukodystrophy, Metachromatic, Neimann Pick Disease, Pelizaeus-Merzbacher Disease, Sandhoff Disease, Tay-Sachs Disease, Brain Diseases, Metabolic, Inborn, Alpha-Mannosidosis, Sanfilippo Mucopolysaccharidoses
Interventions: DUOC-01; Biological
Lead sponsor: Joanne Kurtzberg, MD; Other
Eligibility: 1 Week to 22 Years
Enrollment: 40 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2026
U.S. locations: 1
States / cities: Durham, North Carolina

Conditions: Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease, GM1 Gangliosidosis, Gaucher Disease, Lysosomal Acid Lipase Deficiency, Metachromatic Leukodystrophy, Mucopolysaccharidosis II, Mucopolysaccharidosis III-B, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Niemann-Pick Disease, Type C
Interventions: Confirmatory Testing; Diagnostic Test
Lead sponsor: Albert Einstein College of Medicine; Other
Eligibility: Up to 4 Weeks
Enrollment: 100,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2021 – 2029
U.S. locations: 9
States / cities: Brooklyn, New York • Manhasset, New York • New York, New York + 2 more

Conditions: Niemann-Pick Disease, Type C1
Interventions: VTS-270; Drug
Lead sponsor: Vtesse, LLC, a Mallinckrodt Pharmaceuticals Company; Industry
Eligibility: 2 Years to 25 Years
Enrollment: 14 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2017
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Niemann-Pick Disease, Type C
Interventions: Not listed
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 1 Day to 120 Years
Enrollment: 900 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: Started 2006
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Alzheimer's Disease, Brain Neoplasm, Niemann Pick Disease
Interventions: 15 O Water; Drug
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: Not listed
Enrollment: 123 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 1994 – 2002
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Niemann-Pick Type C Disease, GM1 Gangliosidosis, GM2 Gangliosidosis
Interventions: AZ-3102, Placebo; Drug
Lead sponsor: Azafaros B.V.; Industry
Eligibility: 4 Years and older
Enrollment: 147 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2028
U.S. locations: 5
States / cities: Oakland, California • Minneapolis, Minnesota • Rochester, Minnesota + 2 more

Conditions: Lysosomal Acid Lipase Deficiency, Wolman Disease
Interventions: Sebelipase alfa (SBC-102); Drug
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: Up to 24 Months
Enrollment: 9 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2018
U.S. locations: 1
States / cities: Irvine, California

Conditions: Niemann-Pick Disease, Type C
Interventions: N-Acetyl Cysteine; Drug
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 12 Months and older
Enrollment: 35 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2010
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Niemann-Pick Disease, Type C
Interventions: Parts A/B: Adrabetadex, Parts A/B: Sham Control; Drug · Other
Lead sponsor: Mandos LLC; Industry
Eligibility: 4 Years to 21 Years
Enrollment: 56 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2018
U.S. locations: 14
States / cities: Birmingham, Alabama • Orange, California • San Francisco, California + 11 more

Conditions: Sphingomyelin Lipidosis
Interventions: Investigational Procedures; Procedure
Lead sponsor: Sanofi; Industry
Eligibility: Not listed
Enrollment: 84 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2023
U.S. locations: 3
States / cities: Atlanta, Georgia • The Bronx, New York • Valhalla, New York

Conditions: Niemann-Pick Type C Disease
Interventions: Nizubaglustat, Placebo; Drug
Lead sponsor: Azafaros B.V.; Industry
Eligibility: 4 Years and older
Enrollment: 72 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2028
U.S. locations: 5
States / cities: Oakland, California • Minneapolis, Minnesota • Rochester, Minnesota + 2 more

Conditions: Niemann-Pick Diseases, Acid Sphingomyelinase Deficiency
Interventions: Olipudase alfa; Drug
Lead sponsor: Sanofi; Industry
Eligibility: Up to 2 Years
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2029
U.S. locations: 5
States / cities: Chicago, Illinois • Cincinnati, Ohio • Columbus, Ohio + 2 more

Conditions: Niemann-Pick Disease, Type C1
Interventions: VTS-270; Drug
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 3 Years to 60 Years
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2021
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Lysosomal Acid Lipase Deficiency
Interventions: Sebelipase Alfa; Drug
Lead sponsor: Alexion Pharmaceuticals, Inc.; Industry
Eligibility: Up to 8 Months
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2018
U.S. locations: 1
States / cities: Phoenix, Arizona

Conditions: Niemann-Pick Disease, Type C1
Interventions: Hydroxypropyl-β-cyclodextrin; Drug
Lead sponsor: Cyclo Therapeutics, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2022
U.S. locations: 1
States / cities: Oakland, California

Conditions: Hurler's Syndrome, Maroteaux-Lamy Syndrome, Sly Syndrome, Alpha Mannosidosis, Fucosidosis, Aspartylglucosaminuria, Sphingolipidoses, Krabbe Disease, Wolman's Disease, Niemann-Pick Disease Type B, Niemann-Pick Disease, Type C
Interventions: Stem Cell Transplantation, Cyclophosphamide, Campath-1H, Busulfan; Procedure · Drug
Lead sponsor: Masonic Cancer Center, University of Minnesota; Other
Eligibility: Up to 21 Years
Enrollment: 18 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2010
U.S. locations: 1
States / cities: Minneapolis, Minnesota

Search by objective public record fields.

Arimoclomol Prospective Study in Participants Diagnosed With Niemann-Pick Disease Type C

Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders

Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1

Early Check: Expanded Screening in Newborns

Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease

A Study to Identify and Characterize LAL-D Patients in High-risk Populations

Molecular and Cellular Mechanisms of Lysosomal Storage Diseases

Investigating Lysosomal Storage Diseases in Minority Groups

UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells

ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease

Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C

PET Scan of Brain Metabolism in Relation to Age and Disease

A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis

Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency

Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine

VTS-270 to Treat Niemann-Pick Type C1 (NPC1) Disease

A Prospective and Retrospective Cohort Study in Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)

A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease (NPC)

A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD)

Combined Intrathecal and Intravenous VTS-270 Therapy for Liver and Neurological Disease Associated With Niemann-Pick Disease, Type C1

Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency

Open-Label Study of Long-Term Safety and Efficacy of Intravenous Trappsol Cyclo (HPβCD) in Niemann-Pick Disease Type C

Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism