32 completed, 12 recruiting, 9 terminated, 8 unknown. 25 Phase 2, 15 Phase 1, 14 Phase 3, 6 Not applicable, 1 Early Phase 1.
Follow Niemann-Pick Diseases: new trials by email Literature Review of Niemann-Pick Diseases trials Research Report on Niemann-Pick Diseases
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders AZ-3102 - Niemann-Pick Disease Type C, GM2 Gangliosidosis | Phase 2 / Phase 3 | Not yet recruiting | Azafaros B.V. | 218 | 2026-12-10 | 2026-10-21 |
| A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease AZ-3102 - GM2 Gangliosidosis, Niemann-Pick Type C Disease | Phase 2 | Active not recruiting | Azafaros B.V. | 21 | 2026-02-04 | 2026-10-21 |
| Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD) Acid Sphingomyelinase Deficiency (ASMD) | Active not recruiting | Sohag University | 7 | 2025-11-20 | 2025-12-10 | |
| 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) Nizubaglustat, Placebo - Niemann-Pick Type C Disease | Phase 3 | Recruiting | Azafaros B.V. | 72 | 2025-06-30 | 2026-10-28 |
| 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 AZ-3102, Placebo - Niemann-Pick Type C Disease, GM1 Gangliosidosis | Phase 3 | Recruiting | Azafaros B.V. | 147 | 2025-06-30 | 2026-10-27 |
| Study of the Prevalence of Acid Sphingomyelinase Deficiency/Niemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung Disease Blood sampling for dosage - Splenomegaly, Splenectomy | Not applicable | Recruiting | Wladimir MAUHIN, Dr | 200 | 2025-06-05 | 2026-10-15 |
| National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children Acid Sphingomyelinase Deficiency (ASMD), Niemann Pick Disease | Recruiting | Wladimir MAUHIN, Dr | 200 | 2025-05-02 | 2026-10-15 | |
| 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) Olipudase alfa - Niemann-Pick Diseases, Acid Sphingomyelinase Deficiency | Recruiting | Sanofi | 10 | 2024-04-16 | 2026-09-16 | |
| GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma Gaucher Disease, Acid SphingoMyelinase Deficiency | Recruiting | Fundación Española de Hematología y Hemoterapía | 210 | 2023-05-30 | 2026-02-11 | |
| Magnetic Resonance Spectroscopy in Acid Sphingomyelinase Deficiency MR Spectroscopy (MRS), MR Elastography (MRE) - Asmd, Visceral Type | Not applicable | Unknown | Eline C. B. Eskes | 34 | 2023-05-05 | 2023-06-15 |
| Phase 2 Study Evaluating the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral AZ-3102 in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease AZ-3102 (Dose 1), Placebo, AZ-3102 (Dose 2) - GM2 Gangliosidosis, Niemann-Pick Disease, Type C | Phase 2 | Completed | Azafaros B.V. | 13 | 2023-04-24 | 2026-05-14 |
| Brain Alterations Based on Multiplex MR Imaging in Nasopharyngeal Carcinoma Patients After Treatment, and Their Correlation With Clinical Cognitive Scores. Changes in the brain MTP parameters after radiotherapy - Nasopharyngeal Carcinoma (NPC) | Active not recruiting | Hubei Cancer Hospital | 60 | 2023-04-01 | 2025-06-11 | |
| PREDIGA 2: Spanish Acronym of "Educational and Diagnostic Project for Gaucher and ASMD" Patient with splenomegaly or splenectomy - Gaucher Disease, Acid SphingoMyelinase Deficiency | Completed | Fundación Española de Hematología y Hemoterapía | 122 | 2023-03-21 | 2026-02-19 | |
| Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome | Completed | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 73 | 2023-01-23 | 2026-10-13 | |
| Biomarkers Of Lung InVolvement In ASMD eNose, Volatile exhaled breath sample, Condensate sample - Asmd, Visceral Type | Not applicable | Unknown | Eline C. B. Eskes | 68 | 2022-12-05 | 2023-06-22 |
| Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C Niemann-Pick Disease, Type C | Recruiting | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | 100 | 2022-11-28 | 2026-10-15 | |
| A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C N-Acetyl-L-Leucine, Placebo - Niemann-Pick Disease, Type C | Phase 3 | Recruiting | IntraBio Inc | 53 | 2022-06-30 | 2026-04-03 |
| Data Analysis of Adult and Pediatric Participants With Acid Sphingomyelinase Deficiency (ASMD) on Early Access to Olipudase Alfa in France Olipudase alfa - Acid Sphingomyelinase Deficiency (ASMD) | Completed | Sanofi | 40 | 2022-06-10 | 2025-02-06 | |
| A Study to Evaluate Safety and Tolerability of Olipudase Alfa in Pediatric and Adult Participants With Acid Sphingomyelinase Deficiency (ASMD) Who Completed the DFI12712 or the LTS13632 Study in France Olipudase alfa - Acid Sphingomyelinase Deficiency | Phase 2 | Completed | Sanofi | 3 | 2021-11-18 | 2026-04-13 |
| Retinal Hyperspectral Imaging in Neurodegenerative Diseases Hyperspectral camera - Dementia, Neurodegenerative Diseases | Not applicable | Recruiting | Center for Eye Research Australia | 930 | 2021-10-11 | 2026-04-22 |
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Niemann-Pick Disease, Type C (37) · Gaucher Disease (12) · Niemann-Pick Disease, Type A (10) · Lysosomal Storage Diseases (9) · Leukodystrophy, Globoid Cell (8) · Leukodystrophy, Metachromatic (8) · Wolman Disease (8) · Mucopolysaccharidosis I (6) · Adrenoleukodystrophy (5) · Fucosidosis (5) · Mucopolysaccharidosis VI (5) · Neuronal Ceroid-Lipofuscinoses (5) · Fabry Disease (4) · Gangliosidoses, GM2 (4)
Brain Diseases (72) · Brain Diseases, Metabolic (72) · Central Nervous System Diseases (72) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (72) · Hemic and Lymphatic Diseases (72) · Histiocytosis (72) · Histiocytosis, Non-Langerhans-Cell (72) · Lipid Metabolism, Inborn Errors (72) · Lymphatic Diseases (72) · Lysosomal Storage Diseases, Nervous System (72) · Nervous System Diseases (72) · Nutritional and Metabolic Diseases (72) · Brain Diseases, Metabolic, Inborn (71) · Lipid Metabolism Disorders (71) · Lipidoses (71)
2-Hydroxypropyl-beta-cyclodextrin (9) · olipudase alfa (7) · miglustat (4) · Cyclodextrins (3) · Stem Cell Transplantation (3) · Blood Specimen Collection (2) · Bone Marrow Transplantation (2) · Busulfan (2) · Cyclophosphamide (2) · IB1001 (2) · Sebelipase alfa (2) · acetylleucine (2) · arimoclomol (2) · Acetylcysteine (1) · Alemtuzumab (1)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (6) · Sanofi (6) · Azafaros B.V. (5) · Cyclo Therapeutics, Inc. (4) · Genzyme, a Sanofi Company (4) · Mandos LLC (4) · ZevraDenmark (3) · Actelion (2) · Alexion Pharmaceuticals, Inc. (2) · CENTOGENE GmbH Rostock (2) · Eline C. B. Eskes (2) · Fundación Española de Hematología y Hemoterapía (2) · IntraBio Inc (2) · Masonic Cancer Center, University of Minnesota (2) · O & O Alpan LLC (2)
United States (44) · France (16) · United Kingdom (16) · Germany (14) · Spain (11) · Italy (10) · Australia (9) · Brazil (9) · Turkey (Türkiye) (7) · Switzerland (6) · Argentina (5) · Netherlands (4) · Portugal (4) · Belgium (3) · China (3)
Forbes D Porter, M.D. (6) · Caroline Hastings, MD (2) · Karl-Eugen Mengel (2) · Paul Orchard, MD (2) · Arndt Rolfs, Prof. (1) · Carla EM Hollak, MD, PhD, prof (1) · Carla EM Hollak, prof dr (1) · Claire Buis, Doctor (1) · Claudia Chiriboga, Assoc. Prof. MD (1) · Curt Scharfe, MD, PhD (1) · Dan Liu, MD (1) · George A Diaz, MD, PhD (1)
PMID 36279795, PMID 40525490, PMID 21586746, PMID 34387740, PMID 22476655, PMID 29305734, PMID 30115089, PMID 31187454, PMID 31315600, PMID 32073546, PMID 32620536, PMID 33228797, PMID 33482890, PMID 33738443, PMID 33875845, PMID 34177581, PMID 34349180, PMID 34389161, PMID 34418116, PMID 34810067, PMID 35142618, PMID 36064725, PMID 36721240, PMID 37098529, PMID 37670901, PMID 38042851, PMID 38294974, PMID 38863022, PMID 39628618, PMID 39774103, PMID 40513057, PMID 40739200, PMID 40937531, PMID 41742944, PMID 42052237, PMID 42106890
2015 (3), 2014 (1), 2019 (1), R01HD073292 (1), U01HD090845 (1), U54NS065768 (1)