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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific TreatmentBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Fabry disease, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, X-linked disease, brain disorder, cardiovascular disorder, central nervous system disorder, cerebrovascular disorder, hereditary disease, inborn errors of metabolism, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, sphingolipidosis, vascular disorderRecruitingNot stated2025-12-11NCT07277361
National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and ChildrenBrain 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, sphingolipidosisNot yet recruitingNot stated2025-05-22NCT06985212
Study of the Prevalence of Acid Sphingomyelinase Deficiency/Niemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung DiseaseBrain 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, thrombocytopeniaNot yet recruitingNot applicable2025-05-18NCT06869499