Reaching Milestones in Acid Sphingomyelinase Deficiency

CME: 1.0

Target Audience

The intended audience is U.S. clinical geneticists, clinical laboratory genticists, genetic counselors, pediatricians, pediatric neurologists, hepatologists, cardiologists, internal medicine providers, primary care clinicians, physician assistants and other health care providers who may be involved in the diagnosis and management fo ASMD

Program Overview

Acid sphingomyelinase deficiency (ASMD) is a rare, progressive lysosomal storage disorder with no approved disease-specific therapy; supportive care and symptom management is the current standard of care. Emerging data on investigational enzyme replacement therapy (ERT) are showing effectiveness in mitigating non-neuronopathic symptoms of ASMD. This activity will discuss how to prompt and confirm a diagnosis of ASMD in patients. Emerging data on investigational treatments will be explored, with ways to consider clinical management that leads to optimal outcomes.

Learning Objectives

Upon completion of this activity, participants should be better able to:

  • Identify symptoms suggestive of the different forms of ASMD to prompt further diagnostic testing
  • Describe appropriate biochemical and genetic assays to make a timely differential diagnosis of ASMD, considering difference in genotype/phenotype correlations
  • Evaluate the efficacy, safety, and potential clinical utility of emerging ERT for pediatric and adult patients with ASMD
  • Discuss multidisciplinary management and supportive care strategies for ASMD

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