Improving Diagnosis and Clinical Monitoring of Acid Sphingomyelinase Deficiency

To participate in this activity, please:

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:

1.00 AMA PRA Category 1 CreditTM
1.00 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.

Accreditation and Certification

The Annenberg Center for Health Sciences at Eisenhower is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

The Annenberg Center for Health Sciences at Eisenhower designates this enduring activity for a maximum of 1.00 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Annenberg Center for Health Sciences at Eisenhower is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center’s Commission on Accreditation.
A maximum of 1.00 contact hour, including 0.25 pharmacology hours, may be earned for successful completion of this activity.

Additional Content Planners

Eugene Cullen, MD (Peer Reviewer)
No significant relationships to disclose.

Amber Lea Lambert, MSN, FNP-C, DNP (Nurse Reviewer)
No significant relationships to disclose.

Jessica Martin, PhD (Medical Writer)
No significant relationships to disclose.

Annenberg Center for Health Sciences

Staff at the Annenberg Center for Health Sciences at Eisenhower have no relevant financial relationships to disclose.

All of the financial relationships listed for these individuals have been mitigated.

    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

Learning Objectives

  • Describe the disease spectrum of ASMD disease subtypes A, B, and A/B
  • Diagnose patients suspected of having ASMD
  • Perform comprehensive clinical monitoring of patients with ASMD
  • Summarize the ongoing clinical trials and research that are evaluating new treatments for ASMD

Faculty Disclosures

Margaret M. McGovern, MD, PhD

No relationships to disclose.

Pramod Mistry, MD, PhD

Research Support: Sanofi-Genzyme