Reaching Milestones in Acid Sphingomyelinase Deficiency: Improving Outcomes with Early Diagnosis and Emerging Treatments

Access Activity

Overview / Abstract:

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

Expiration

Apr 14, 2023

Discipline(s)

Physician CME, Physician Assistant CME

Format

Online

Credits / Hours

1.0 AMA PRA Category 1 Credit(s)™

Accreditation

ACCME

Presenters / Authors / Faculty

Faculty

FACULTY_NAME
Roberto Giugliani, MD, PhD (Course Director
Professor, Department of Genetics
Federal University of Rio Grande do Sul
Porto Alegre, Brazil

FACULTY_NAME
Robin Lachmann, MB, BChir, PhD, FRCP
University College London Hospitals
NHS Foundation Trust
Charles Dent Metabolic Unit
National Hospital for Neurology and Neurosurgery
London, United Kingdom

FACULTY_NAME
Margaret McGovern, MD, PhD
Knapp Professor of Pediatrics
Dean for Clinical Affairs
Stony Brook University
Vice President Health System Clinical Programs and Strategy
Stony Brook Medicine
Stony Brook, New York

Sponsors / Supporters / Grant Providers

Sanofi Genzyme

Keywords / Search Terms

Relias LLC Relias LLC., FreeCME., Sphingomyelinase Free CE CME

Access Activity

CORE Higher Education Group, CESearchEngine.com, and our advertising partners do not endorse and do not verify the accuracy of the content in the activities presented on the CESearchEngine.com website or within our mobile apps.CORE Higher Education Group, CESearchEngine.com, and our advertising partners are not responsible for errors, omissions, or misrepresentations contained within activities presented on the CESearchEngine website or within our mobile apps. For complete details, please read the CESearchEngine.com Terms of Service. Site Map