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

2025-06-09

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<title>Abstract</title> <p><bold>Background:</bold> Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder caused by <italic>SMPD1</italic> mutations, resulting in sphingomyelin accumulation and diverse manifestations. Olipudase alfa, an enzyme replacement therapy, has shown efficacy in treating non-neurological symptoms of ASMD, while its impact on patient-reported outcomes remains underexp...

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Literature Corpus work
ac1866ce-cff6-5487-b8e9-0033c47bee3a
DOI
10.21203/rs.3.rs-6572348/v1
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