Niemann-Pick disease
Niemann-Pick disease
Explore linked clinical trials. Standard reference: MONDO:000198217 results · Page 1 of 1
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Niemann-Pick disease, Niemann-Pick disease type C, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, histiocytosis, inborn errors of metabolism, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, non-Langerhans cell histiocytosis, sphingolipidosis | Recruiting | Not stated | 2026-10-02 | NCT00344331 | |
| 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) | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Niemann-Pick disease, Niemann-Pick disease type C, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, histiocytosis, inborn errors of metabolism, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, non-Langerhans cell histiocytosis, sphingolipidosis | Recruiting | Phase 3 | 2026-09-28 | NCT07082725 | |
| 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 | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, GM1 gangliosidosis, GM2 gangliosidosis, Gangliosidoses, Hemic and Lymphatic Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Niemann-Pick disease, Niemann-Pick disease type C, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, histiocytosis, inborn errors of metabolism, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, non-Langerhans cell histiocytosis, sphingolipidosis | Recruiting | Phase 3 | 2026-09-24 | NCT07054515 | |
| 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) | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Niemann-Pick disease, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, histiocytosis, inborn errors of metabolism, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, non-Langerhans cell histiocytosis, sphingolipidosis | Recruiting | Not stated | 2026-09-16 | NCT06192576 | |
| UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, GM2 gangliosidosis, Gangliosidoses, Hemic and Lymphatic Diseases, Hereditary Central Nervous System Demyelinating Diseases, Krabbe disease, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Mannosidase Deficiency Diseases, Neurobehavioral Manifestations, Neurologic Manifestations, Neuronal Ceroid-Lipofuscinoses, Niemann-Pick disease, Niemann-Pick disease type A, Nutritional and Metabolic Diseases, Pelizaeus-Merzbacher spectrum disorder, Peroxisomal Disorders, Sandhoff disease, Skin and Connective Tissue Diseases, Sulfatidosis, Tay-Sachs disease, X-linked disease, adrenal gland disorder, adrenocortical insufficiency, adrenoleukodystrophy, alpha-mannosidosis, brain disorder, central nervous system disorder, connective tissue disorder, cutaneous mucinosis, demyelinating disease, endocrine system disorder, hereditary disease, histiocytosis, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intellectual disability, juvenile neuronal ceroid lipofuscinosis, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, metachromatic leukodystrophy, mucopolysaccharidosis, mucopolysaccharidosis type 2, nervous system disorder, neurodegenerative disease, non-Langerhans cell histiocytosis, sphingolipidosis | Recruiting | Phase 1 | 2026-09-03 | NCT02254863 | |
| Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Niemann-Pick disease, Niemann-Pick disease type C, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, histiocytosis, inborn errors of metabolism, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, non-Langerhans cell histiocytosis, sphingolipidosis | Recruiting | Not stated | 2026-08-31 | NCT05588167 | |
| ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Ceroid Lipofuscinosis, Neuronal, 2, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Fabry disease, GM1 gangliosidosis, Gangliosidoses, Gaucher disease, Hemic and Lymphatic Diseases, Hereditary Central Nervous System Demyelinating Diseases, Infant, Newborn, Diseases, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Mucopolysaccharidosis III, Neurobehavioral Manifestations, Neurologic Manifestations, Niemann-Pick disease, Niemann-Pick disease type C, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Skin and Connective Tissue Diseases, Sulfatidosis, Wolman disease, X-linked disease, brain disorder, cardiovascular disorder, central nervous system disorder, cerebrotendinous xanthomatosis, cerebrovascular disorder, cholesteryl ester storage disease, connective tissue disorder, cutaneous mucinosis, demyelinating disease, hereditary disease, histiocytosis, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intellectual disability, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, metachromatic leukodystrophy, mucopolysaccharidosis, mucopolysaccharidosis type 2, mucopolysaccharidosis type 4, mucopolysaccharidosis type 6, mucopolysaccharidosis type 7, nervous system disorder, non-Langerhans cell histiocytosis, sphingolipidosis, vascular disorder, xanthomatosis | Enrolling by invitation | Not stated | 2026-07-28 | NCT05368038 | |
| Early Check: Expanded Screening in Newborns | 3-hydroxy-3-methylglutaric aciduria, 3-hydroxyacyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-phosphoglycerate dehydrogenase deficiency, AGAT deficiency, Abnormalities, Multiple, Adrenal hyperplasia, congenital, type 5, Adrenoleukodystrophy, Neonatal, Angelman syndrome, Aortic Stenosis, Supravalvular, Arrhythmias, Cardiac, Barth syndrome, Bone Diseases, Developmental, Bone Diseases, Endocrine, Bone Diseases, Metabolic, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Canavan disease, Cardiac Conduction System Disease, Cardiovascular Abnormalities, Chronic Disease, Citrullinemia 1, Collagen Diseases, Congenital Abnormalities, Congenital Hyperinsulinism, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Digestive System Diseases, Disease Attributes, Duchenne muscular dystrophy, Dwarfism, Dyslipidemias, Epilepsies, Myoclonic, Epilepsy, Generalized, Epileptic Syndromes, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Fructose Metabolism, Inborn Errors, G6PD deficiency, Glycogen Storage Disease, Type IXA2, Hemic and Lymphatic Diseases, Hereditary Central Nervous System Demyelinating Diseases, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 4, Hyperphenylalaninemia, BH4-Deficient, B, Hypophosphatemia, Familial, Imprinting Disorders, Infant, Newborn, Diseases, Jervell and Lange-Nielsen syndrome, Jervell and Lange-Nielsen syndrome 1, Jervell and Lange-Nielsen syndrome 2, Krabbe disease, Leber congenital amaurosis 2, Leukoencephalopathies, Liddle syndrome, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, MPI-congenital disorder of glycosylation, Male Urogenital Diseases, Maple syrup urine disease, type 1A, Maple syrup urine disease, type 1B, Maple syrup urine disease, type 2, Menkes disease, Methylmalonic aciduria cblB type, Mucopolysaccharidosis I, Mucopolysaccharidosis III, Mucopolysaccharidosis Type IV A, Muscular Disorders, Atrophic, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Germ Cell and Embryonal, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Neurobehavioral Manifestations, Neurologic Manifestations, Niemann-Pick disease, Niemann-Pick disease type A, Niemann-Pick disease type C, Niemann-Pick disease, type C1, Niemann-Pick disease, type C2, Nutritional and Metabolic Diseases, Overweight, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Peroxisomal Disorders, Pitt-Hopkins syndrome, Prader-Willi syndrome, Primary Immunodeficiency Diseases, Rett syndrome, Schnyder corneal dystrophy, Sex Chromosome Disorders, Skin and Connective Tissue Diseases, Smith-Lemli-Opitz syndrome, Stickler syndrome type 1, Stickler syndrome type 2, Stress Disorders, Traumatic, Sulfatidosis, Tyrosinemia, Type I, Urogenital Abnormalities, Urogenital Diseases, Usher syndrome type 1B, Usher syndrome type 1C, Usher syndrome, type 1C, Usher syndrome, type 1F, Ventricular Outflow Obstruction, Waardenburg Syndrome, Type 2E, Waardenburg syndrome, Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 2A, Wilson disease, Wolman disease, X-Linked Combined Immunodeficiency Diseases, X-linked Alport syndrome, X-linked disease, X-linked hypophosphatemic rickets, acrodermatitis enteropathica, acute stress disorder, adenine phosphoribosyltransferase deficiency, albinism, anemia, aortic valve disorder, aortic valve stenosis, apparent mineralocorticoid excess, arginase deficiency, argininosuccinic aciduria, autosomal recessive Alport syndrome, basal ganglia disorder, beta thalassemia, beta-ketothiolase deficiency, biotin-responsive basal ganglia disease, biotinidase deficiency, blood coagulation disease, blood platelet disease, bone disorder, brain disorder, calcium metabolic disease, carbamoyl phosphate synthetase I deficiency disease, cardiovascular disorder, carnitine palmitoyl transferase 1A deficiency, carnitine palmitoyltransferase II deficiency, carnitine-acylcarnitine translocase deficiency, central nervous system disorder, cerebrotendinous xanthomatosis, cholesteryl ester storage disease, chromosomal disorder, chronic granulomatous disease, citrullinemia, coagulation protein disease, combined immunodeficiency due to ZAP70 deficiency, congenital bile acid synthesis defect 1, congenital bile acid synthesis defect 2, congenital heart disease, congenital hypothyroidism, congenital isolated adrenocorticotropic hormone deficiency, connective tissue disorder, creatine transporter deficiency, cutaneous mucinosis, cystic fibrosis, cystinosis, demyelinating disease, diabetes mellitus, disease, disorder of glycogen metabolism, disorder of pilosebaceous unit, dopa-responsive dystonia due to sepiapterin reductase deficiency, encephalopathy due to GLUT1 deficiency, endocrine system disorder, epilepsy, epilepsy, early-onset, vitamin B6-dependent, epithelial neoplasm, eye disorder, factor VII deficiency, factor X deficiency, familial hemolytic anemia, familial isolated deficiency of vitamin E, fragile X syndrome, fructose-1,6-bisphosphatase deficiency, galactosemia, glucose metabolism disease, glutaryl-CoA dehydrogenase deficiency, glycogen storage disease I, glycogen storage disease II, glycogen storage disease IXb, glycogen storage disease IXc, glycogen storage disease Ib, guanidinoacetate methyltransferase deficiency, heart disorder, heart valve disorder, hematologic disorder, hemolytic anemia, hemophilia A, hemophilia B, hemorrhagic disease, hereditary disease, hereditary fructose intolerance, hereditary neoplastic syndrome, hereditary nephritis, hereditary skin disorder, histiocytosis, holocarboxylase synthetase deficiency, homocystinuria, homocystinuria due to methylene tetrahydrofolate reductase deficiency, hyperammonemia due to N-acetylglutamate synthase deficiency, hyperhomocysteinemia, hyperinsulinemic hypoglycemia, familial, 2, hyperinsulinism, hyperinsulinism-hyperammonemia syndrome, hypoglycemia, hypophosphatasia, hypophosphatemia, hypophosphatemic rickets, hypopigmentation of the skin, hypothyroidism, hypothyroidism due to TSH receptor mutations, immune system disorder, inborn carbohydrate metabolic disorder, inborn disorder of amino acid metabolism, inborn error of immunity, inborn errors of metabolism, inborn metal metabolism disorder, inborn mitochondrial metabolism disorder, inherited blood coagulation disorder, inherited hemoglobinopathy, inherited neurodegenerative disorder, intellectual disability, isovaleric acidemia, kidney disorder, leukocyte disorder, liver disorder, lung disorder, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, malignant endocrine neoplasm, maturity-onset diabetes of the young type 4, medium chain acyl-CoA dehydrogenase deficiency, metabolic disease, metachromatic leukodystrophy, methylcobalamin deficiency type cblE, methylmalonic aciduria and homocystinuria, methylmalonic aciduria and homocystinuria type cblC, methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, methylmalonic aciduria, cblA type, mitochondrial trifunctional protein deficiency, motor neuron disorder, movement disorder, mucopolysaccharidosis, mucopolysaccharidosis type 1, mucopolysaccharidosis type 2, mucopolysaccharidosis type 3A, mucopolysaccharidosis type 4, mucopolysaccharidosis type 6, mucopolysaccharidosis type 7, multiple carboxylase deficiency, multiple endocrine neoplasia, multiple endocrine neoplasia type 2B, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, neonatal severe primary hyperparathyroidism, neoplasm, nephritis, nervous system disorder, neurodegenerative disease, neuroepithelial neoplasm, neuromuscular disease, non-Langerhans cell histiocytosis, nutritional deficiency disease, nutritional disorder, obesity disorder, ocular cancer, oculocutaneous albinism, optic choroid disorder, ornithine aminotransferase deficiency, ornithine carbamoyltransferase deficiency, ornithine translocase deficiency, overnutrition, pancreas disorder, pancreatic agenesis 1, permanent neonatal diabetes mellitus, phagocyte bactericidal dysfunction, phenylketonuria, phosphorus metabolism disease, pituitary hormone deficiency, combined, 1, platelet storage pool deficiency, post-traumatic stress disorder, primary hyperoxaluria type 1, primary hyperoxaluria type 2, primary hyperoxaluria type 3, primitive neuroectodermal tumor, propionic acidemia, pseudohypoaldosteronism, pseudohypoaldosteronism type 1, psychiatric disorder, pyridoxal phosphate-responsive seizures, pyridoxine-dependent epilepsy, renal tubular transport disease, respiratory system disorder, retinal cancer, retinal disorder, retinoblastoma, riboflavin transporter deficiency, rickets, severe combined immunodeficiency, severe combined immunodeficiency due to DCLRE1C deficiency, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency, sickle cell disease, skin disorder, skin pigmentation disorder, sphingolipidosis, spinal cord disorder, spinal muscular atrophy, steroid inherited metabolic disorder, sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, thalassemia, thyroid dyshormonogenesis 2A, thyroid dyshormonogenesis 3, thyroid dyshormonogenesis 5, thyroid dyshormonogenesis 6, thyroid gland disorder, transcobalamin II deficiency, transient neonatal diabetes mellitus, tuberous sclerosis 1, tuberous sclerosis 2, tyrosine hydroxylase deficiency, tyrosinemia, urea cycle disorder, urinary system disorder, uveal disorder, very long chain acyl-CoA dehydrogenase deficiency, vitamin D deficiency, vitamin deficiency disorder, von Willebrand disease (hereditary or acquired), von Willebrand disease 3, xanthomatosis | Active, not recruiting | Not stated | 2026-07-01 | NCT03655223 | |
| A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, GM2 gangliosidosis, Gangliosidoses, Hemic and Lymphatic Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Niemann-Pick disease, Niemann-Pick disease type C, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, histiocytosis, inborn errors of metabolism, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, non-Langerhans cell histiocytosis, sphingolipidosis | Recruiting | Phase 2 | 2026-06-18 | NCT07399704 | |
| Retinal Hyperspectral Imaging in Neurodegenerative Diseases | Alzheimer disease, Arterial Occlusive Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Frontotemporal Lobar Degeneration, Hemic and Lymphatic Diseases, Leukoencephalopathies, Lewy body dementia, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Niemann-Pick disease, Nutritional and Metabolic Diseases, Parkinson disease, TDP-43 proteinopathy, arteriosclerosis disorder, basal ganglia disorder, brain disorder, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, cognitive disorder, dementia, frontotemporal dementia, hereditary disease, histiocytosis, inborn errors of metabolism, intracranial arterial disease, intracranial arteriosclerosis, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, movement disorder, nervous system disorder, neurodegenerative disease, non-Langerhans cell histiocytosis, parkinsonian disorder, proteostasis deficiencies, psychiatric disorder, sphingolipidosis, synucleinopathy, tauopathy, vascular dementia, vascular disorder | Recruiting | Not applicable | 2026-04-22 | NCT07545473 | |
| A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Niemann-Pick disease, Niemann-Pick disease type C, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, histiocytosis, inborn errors of metabolism, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, non-Langerhans cell histiocytosis, sphingolipidosis | Recruiting | Phase 3 | 2026-04-03 | NCT05163288 | |
| GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma | Blood Protein Disorders, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Gaucher disease, Hemic and Lymphatic Diseases, Hypertrophy, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Neoplasms by Histologic Type, Niemann-Pick disease, Nutritional and Metabolic Diseases, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Splenomegaly, brain disorder, cardiovascular disorder, central nervous system disorder, hematologic disorder, hemorrhagic disease, hereditary disease, histiocytosis, immune system disorder, immunoproliferative disorder, inborn errors of metabolism, lymphatic system disorder, lymphoproliferative syndrome, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, monoclonal gammopathy, neoplasm, nervous system disorder, non-Langerhans cell histiocytosis, plasma cell neoplasm, sphingolipidosis, vascular disorder, vascular hemostatic disease | Recruiting | Not stated | 2026-02-11 | NCT05992532 | |
| Longitudinal Study of Neurodegenerative Disorders | Bone Diseases, Developmental, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Death, Death, Sudden, GM2 gangliosidosis, Gangliosidoses, Gaucher disease, Hemic and Lymphatic Diseases, Hereditary Central Nervous System Demyelinating Diseases, Infant Death, Krabbe disease, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Mannosidase Deficiency Diseases, Mucopolysaccharidosis III, Neuronal Ceroid-Lipofuscinoses, Niemann-Pick disease, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Pelizaeus-Merzbacher spectrum disorder, Sandhoff disease, Skin and Connective Tissue Diseases, Sudden Infant Death, Sulfatidosis, Tay-Sachs disease, X-linked disease, adrenoleukodystrophy, alpha-mannosidosis, bone disorder, brain disorder, central nervous system disorder, connective tissue disorder, cutaneous mucinosis, demyelinating disease, disorder of methionine catabolism, giant axonal neuropathy 1, hereditary disease, histiocytosis, hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, juvenile neuronal ceroid lipofuscinosis, leukodystrophy, leukoencephalopathy with vanishing white matter 1, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, metachromatic leukodystrophy, mucopolysaccharidosis, mucopolysaccharidosis type 4, mucosulfatidosis, musculoskeletal system disorder, nervous system disorder, neurodegenerative disease, non-Langerhans cell histiocytosis, osteochondrodysplasia, osteopetrosis, osteosclerosis, pantothenate kinase-associated neurodegeneration, purine nucleoside phosphorylase deficiency, sphingolipidosis | Recruiting | Not stated | 2026-02-09 | NCT03333200 | |
| Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD) | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Niemann-Pick disease, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, histiocytosis, inborn errors of metabolism, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, non-Langerhans cell histiocytosis, sphingolipidosis | Active, not recruiting | Not stated | 2025-12-10 | NCT07274826 | |
| Brain Alterations Based on Multiplex MR Imaging in Nasopharyngeal Carcinoma Patients After Treatment, and Their Correlation With Clinical Cognitive Scores. | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cognition Disorders, Cognitive Dysfunction, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Head and Neck Neoplasms, Hemic and Lymphatic Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Neoplasms by Histologic Type, Neoplasms by Site, Niemann-Pick disease, Niemann-Pick disease type A, Nutritional and Metabolic Diseases, Otorhinolaryngologic Neoplasms, Pharyngeal Diseases, Stomatognathic Diseases, brain disorder, carcinoma, central nervous system disorder, cognitive disorder, epithelial neoplasm, hereditary disease, histiocytosis, inborn errors of metabolism, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nasopharyngeal carcinoma, nasopharyngeal disorder, nasopharyngeal neoplasm, neoplasm, nervous system disorder, non-Langerhans cell histiocytosis, otorhinolaryngologic disease, psychiatric disorder, sphingolipidosis | Active, not recruiting | Not stated | 2025-06-11 | NCT07011329 | |
| National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Niemann-Pick disease, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, histiocytosis, inborn errors of metabolism, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, non-Langerhans cell histiocytosis, sphingolipidosis | Not yet recruiting | Not stated | 2025-05-22 | NCT06985212 | |
| Study of the Prevalence of Acid Sphingomyelinase Deficiency/Niemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung Disease | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cytopenia, Hemic and Lymphatic Diseases, Hypertrophy, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Niemann-Pick disease, Nutritional and Metabolic Diseases, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Splenomegaly, blood platelet disease, brain disorder, central nervous system disorder, hematologic disorder, hereditary disease, histiocytosis, inborn errors of metabolism, interstitial lung disease, lung disorder, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, non-Langerhans cell histiocytosis, respiratory system disorder, sphingolipidosis, thrombocytopenia | Not yet recruiting | Not applicable | 2025-05-18 | NCT06869499 |