Improving Diagnosis and Clinical Monitoring of Acid Sphingomyelinase Deficiency

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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. Dr. McGovern will discuss the pathophysiology of ASMD as well as the diagnosis, classification, and initial evaluation of this disorder. Dr. Mistry will then review ongoing disease management as well as a novel enzyme replacement therapy, olipudase alfa, which has shown promising results in clinical trials.

This program is also available as a podcast. You may download it here:

Course Credit:

1 AMA PRA Category 1 CreditTM
1 ANCC Contact Hour
0.25 Pharmacology Hours


Opens: 2022-05-27
Closes: 2023-05-27

Target Audience:

This activity was developed for medical geneticists, metabolic disease specialists, along with other clinicians providing care to patients with acid sphingomyelinase deficiency (ASMD) including pediatricians, internists, pulmonologists, neurologists, hepatologists, gastroenterologists, hematologists and genetic counselors.

This activity is supported by an educational grant from Sanofi Genzyme.

    Presenting Faculty

  • Margaret M. McGovern, MD, PhD

    Knapp Chair in Pediatrics and Dean for Clinical Affairs
    Renaissance School of Medicine at Stony Brook University
    Vice President for Clinical Programs and Strategy
    Stony Brook Medicine
    Stony Brook, New York

  • Pramod Mistry, MD, PhD

    Professor of Medicine and of Pediatrics
    Professor of Cellular & Molecular Physiology
    Yale School of Medicine
    Director of Yale Lysosomal Disease Center and Gaucher Disease Treatment Center
    New Haven, Connecticut