Improving Diagnosis and Clinical Monitoring of Acid Sphingomyelinase Deficiency

Improving Diagnosis and Clinical Monitoring of Acid Sphingomyelinase Deficiency

Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disorder that causes accumulation of sphingomyelin in various organs. In addition to a low incidence, ASMD has a heterogeneous presentation that makes management challenging. Join experts Margaret McGovern, MD, PhD, and Pramod Mistry, MD, PhD, in this review of the diagnosis and treatment of patients with ASMD.


May 26, 2022 26 min
  • Overview of olipudase alfa
  • Efficacy and safety of olipudase alfa from phase 2 and 3 trials
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  • Surveillance recommendations for patients with ASMD
  • Ongoing symptomatic management and support
  • Role of liver transplantation
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  • Initial evaluation and management of ASMD
  • Clinical trial enrollment
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  • Clinical presentations of ASMD
  • Diagnostic algorithms
  • Enzymatic testing
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    May 26, 2022 4 min
  • Pathophysiology of ASMD
  • ASMD phenotypes
  • Mark as Played

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