Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina.
New registry data on a rare storage disease supports real-world monitoring of newly approved enzyme replacement therapy.
This multicenter Argentinian registry describes 19 patients with acid sphingomyelinase deficiency (Niemann-Pick disease type A/B), providing natural history data for a lysosomal storage disease where olipudase alfa has recently received approval. The cohort contributes population-level characterization of ASMD severity and clinical milestones from an underrepresented geographic region, relevant for global real-world evidence of the new ERT.
What the study was
- Study design
- Multicenter case series
- Category
- Diagnostics
- Maturity
- Validated
- Journal
- JIMD Rep
Why it surfaced
ASMD has a recently approved enzyme replacement therapy (olipudase alfa); real-world clinical characterization supports post-marketing surveillance; multicenter design strengthens evidence.
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