Real-life impacts of olipudase alfa: experiences of adults receiving enzyme replacement therapy for acid sphingomyelinase deficiency—results from an international survey study

Abstract Background Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder caused by SMPD1 mutations, resulting in sphingomyelin accumulation and diverse manifestations. Olipudase alfa, an enzyme replacement therapy, has shown efficacy in treating non-neurological symptoms of A...

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Hlavní autoři:	Adel Sabet Morsy, Solomon Mbua, Toni Mathieson, Justin Hopkin, Shaun Bolton
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2025-09-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	Acid sphingomyelinase deficiency Olipudase alfa Enzyme replacement therapy Niemann pick diseases Visceral symptoms Neurological symptoms.
On-line přístup:	https://doi.org/10.1186/s13023-025-03997-6
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