Acid Sphingomyelinase Deficiency (ASMD) (DBCOND0147964)

Identifiers

Synonyms

Human Acid Sphingomyelinase Deficiency / Acid Sphingomyelinase Deficiency / Acid Sphingomyelinase-deficient Niemann-Pick Disease / Niemann-Pick disease, unspecified / Niemann-Pick disease / Sphingomyelin/cholesterol lipidosis (disorder) / Sphingomyelin lipidosis / Niemann-Pick Diseases

Associated Data

Indicated Drugs and Targets

Drug	Description	Targets
Olipudase alfa	A recombinant human acid sphingomyelinase used to treat Acid Sphingomyelinase Deficiency (ASMD) in children and adults.	No drug targets

Clinical Trials

Identifier	Title	Drug(s)	Purpose	Phase	Status
NCT01722526	Tolerability and Safety Study of Recombinant Human Acid Sphingomyelinase in Acid Sphingomyelinase Deficiency Patients	Olipudase alfa	treatment	1	completed
NCT05359276	Data Analysis of Adult and Pediatric Participants With Acid Sphingomyelinase Deficiency (ASMD) on Early Access to Olipudase Alfa in France	Olipudase alfa	Not Available	Not Available	recruiting
NCT04845958	A Non-Interventional National Study in Pediatric Patients With Unexplained Enlarged Spleen	No drug interventions	Not Available	Not Available	recruiting
NCT05368038	ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program	No drug interventions	Not Available	Not Available	enrolling_by_invitation
NCT05992532	GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma	No drug interventions	Not Available	Not Available	recruiting
NCT00410566	Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)	No drug interventions	treatment	1	terminated
NCT05641103	PREDIGA 2: Spanish Acronym of "Educational and Diagnostic Project for Gaucher and ASMD"	No drug interventions	Not Available	Not Available	recruiting
NCT06192576	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	Not Available	Not Available	recruiting