Improving Diagnosis and Clinical Monitoring of Acid Sphingomyelinase Deficiency

By: Annenberg Center for Health Sciences
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  • Summary

  • 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.
    Annenberg Center for Health Sciences
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Episodes
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    Emerging Therapies: Efficacy and Safety Data from Phase 3 Trials
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  • Clinical Management and Treatment Monitoring Part 2

    Clinical Management and Treatment Monitoring Part 2
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    • Surveillance recommendations for patients with ASMD
    • Ongoing symptomatic management and support
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  • Clinical Management and Treatment Monitoring Part 1

    Clinical Management and Treatment Monitoring Part 1
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    • Initial evaluation and management of ASMD
    • Clinical trial enrollment
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    4 mins

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