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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: 3 Months and older
Enrollment: 100 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2026
U.S. locations: 1
States / cities: Bethesda, Maryland

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: Sphingomyelin Lipidosis
Interventions: placebo (saline), Olipudase alfa; Drug
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: 18 Years and older
Enrollment: 36 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2015 – 2023
U.S. locations: 3
States / cities: San Francisco, California • Decatur, Georgia • The Bronx, New York

Conditions: Niemann-Pick Disease, Type C
Interventions: Not listed
Lead sponsor: Mayo Clinic; Other
Eligibility: 2 Years to 99 Years
Enrollment: 70 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2014
U.S. locations: 1
States / cities: Rochester, Minnesota

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: Niemann-Pick Disease, Type C
Interventions: IB1001; Drug
Lead sponsor: IntraBio Inc; Industry
Eligibility: 6 Years and older
Enrollment: 33 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2022
U.S. locations: 1
States / cities: Rochester, Minnesota

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: Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type C1
Interventions: Not listed
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 6 Months to 110 Years
Enrollment: 73 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2025
U.S. locations: 1
States / cities: Bethesda, Maryland

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: 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: 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 – 2025
U.S. locations: 1
States / cities: Research Triangle Park, North Carolina

Conditions: Sphingomyelin Lipidosis
Interventions: Olipudase alfa; Drug
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: Up to 17 Years
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2019
U.S. locations: 1
States / cities: New York, New York

Conditions: Niemann-Pick Disease, Type C1
Interventions: Hydroxypropyl-beta-cyclodextrin, Placebo; Drug
Lead sponsor: Cyclo Therapeutics, Inc.; Industry
Eligibility: 3 Years and older
Enrollment: 94 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2026
U.S. locations: 7
States / cities: Oakland, California • Jacksonville, Florida • Atlanta, Georgia + 4 more

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: 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 – 2027
U.S. locations: 5
States / cities: Oakland, California • Minneapolis, Minnesota • Rochester, Minnesota + 2 more

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 Disease, Type C
Interventions: Arimoclomol; Drug
Lead sponsor: ZevraDenmark; Industry
Eligibility: 2 Years and older
U.S. locations: 13
States / cities: Birmingham, Alabama • Oakland, California • Orange, California + 10 more

Conditions: Inherited Metabolic Diseases, Lysosomal Storage Disorders, Peroxisomal Storage Diseases, Inborn Errors of Metabolism, Mucopolysaccharidosis
Interventions: ALD-101; Biological
Lead sponsor: Aldagen; Industry
Eligibility: Up to 16 Years
Enrollment: 40 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2008 – 2011
U.S. locations: 3
States / cities: Los Angeles, California • New York, New York • Durham, North Carolina

Conditions: Niemann-Pick Disease, Type C
Interventions: VTS-270; Drug
Lead sponsor: Washington University School of Medicine; Other
Eligibility: Up to 6 Months
Enrollment: 4 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2024
U.S. locations: 1
States / cities: St Louis, Missouri

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: Niemann-Pick Disease, Type C
Interventions: Adrabetadex; Drug
Lead sponsor: Mandos LLC; Industry
Eligibility: 4 Years to 21 Years
Enrollment: 66 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2022
U.S. locations: 15
States / cities: Birmingham, Alabama • Orange, California • San Francisco, California + 12 more

Conditions: Sphingomyelin Lipidosis
Interventions: GZ402665; Drug
Lead sponsor: Genzyme, a Sanofi Company; Industry
Eligibility: Not listed
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2023
U.S. locations: 1
States / cities: New York, New York

Conditions: Niemann-Pick Disease, Type C
Interventions: N-Acetyl-L-Leucine, Placebo; Drug · Other
Lead sponsor: IntraBio Inc; Industry
Eligibility: 4 Years and older
Enrollment: 53 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2030
U.S. locations: 1
States / cities: Rochester, Minnesota

Conditions: Gangliosidoses, GM2, Gangliosidosis, GM1
Interventions: AZ-3102, Placebo; Drug
Lead sponsor: Azafaros B.V.; Industry
Eligibility: 4 Years and older
Enrollment: 75 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2027
U.S. locations: 5
States / cities: Oakland, California • Minneapolis, Minnesota • Rochester, Minnesota + 2 more

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Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C

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

Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency

Longitudinal Study of Cognition With Niemann-Pick Disease, Type C

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

N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)

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

Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls

Molecular and Cellular Mechanisms of Lysosomal Storage Diseases

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

Early Check: Expanded Screening in Newborns

Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency

Phase 3 Study to Evaluate Intravenous Trappsol(R) Cyclo(TM) in Pediatric and Adult Patients With Niemann-Pick Disease Type C1

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

PET Scan of Brain Metabolism in Relation to Age and Disease

Early Access Program With Arimoclomol in US Patients With NPC

ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases

Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C

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

Adrabetadex to Treat Niemann-Pick Type C1 (NPC1) Disease

A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency

A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C

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