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

Released On
May 24, 2022

Expires On
May  24, 2023

Media Type

Completion Time
75 minutes

Cardiology, Genetics, Hepatology, Neurology, Other, Primary Care, Pediatrics

Genetic Disease

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This activity is jointly provided by AKH Inc., Advancing Knowledge in Healthcare and Catalyst Medical Education.

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

Credit Available

  • Physicians — maximum of 1.25 AMA PRA Category 1 Credit(s)
  • Physician Assistants — 1.25 AAPA Category 1 CME credits

All other healthcare professionals completing this course will be issued a statement of participation.

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



Roberto Giugliani, MD, PhD (Course Director

Professor, Department of Genetics
Federal University of Rio Grande do Sul
Porto Alegre, Brazil


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


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

Accreditation Statement

In support of improving patient care, this activity has been planned and implemented by AKH Inc., Advancing Knowledge in Healthcare and Catalyst Medical Education, LLC. AKH Inc., Advancing Knowledge in Healthcare is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Credit Designation

AKH Inc., Advancing Knowledge in Healthcare designates this enduring material activity for a maximum of 1.25 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

For physicians, hours of participation are the number of AMA PRA Category 1 Credit(s)™ awarded.

Physician Assistants
AKH Inc., Advancing Knowledge in Healthcare has been authorized by the American Academy of PAs (AAPA) to award AAPA Category 1 CME credit for activities planned in accordance with AAPA CME Criteria. This activity is designated for 1.25 AAPA Category 1 CME credits. Approval is valid until May 24, 2023. PAs should only claim credit commensurate with the extent of their participation.

Genetic Counselor CEUs
To apply for National Society of Genetic Counselors Category 2 CEU, please go to

Disclosures of Conflicts of Interest

It is the policy of AKH Inc. to ensure independence, balance, objectivity, scientific rigor, and integrity in all of its continuing education activities. The author must disclose to the participants any significant relationships with ineligible companies whose products or devices may be mentioned in the activity or with the commercial supporter of this continuing education activity. Identified conflicts of interest are mitigated by AKH prior to accreditation of the activity. AKH planners and reviewers have no relevant financial relationships to disclose.

Roberto Giugliani, MD, PhD (Course Director)
  • Consultant: Abeona, Amicus, Denali, Idorsia, Inventiva, JCR, Novartis, PTC, REGENXBIO, Sigilon, Sobi
  • Researcher: Allievex, Azafaros, Chiesi, Cyclo, Idorsia, JCR, Lysogene, Paradigm, Passage Bio, PTC, REGENXBIO, Sanofi, Takeda, Ultragenyx
  • Speaker: Amicus, BioMarin, Chiesi, JCR, Novartis, PTC, REGENXBIO, Sanofi, Takeda, Ultragenyx
Robin Lachmann, MB, BChir, PhD, FRCP
  • Consultant: Arcturus, Axcella, BioMarin, Kyowa Kirin International, Nestle Health Sciences, Sanofi Genzyme, Takeda
  • Speaker: Sanofi Genzyme

Margaret M. McGovern, MD, PhD, has disclosed no financial relationships.

Deepti Babu, MS, CGC, Medical Writer, has no financial relationships to disclose.
Dorothy Caputo, MA, BSN, RN, AKH CE Director of Accreditations, has disclosed no financial relationships.
Michele Bielarski, RN, AKH Nurse Reviewer, has disclosed no financial relationships.
Trish Brignoni, AKH Manager, Operations & Compliance, has disclosed no financial relationships.

AKH and Catalyst Medical Education, LLC Planners and Reviewers, have disclosed no financial relationships.

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

Instructions for Participation and Credit

To obtain a certificate of completion, a score of 70% or better on the post-test is required. Please proceed with the activity until you have successfully completed this program, answered all test questions, completed the post-test and evaluation, and have received a digital copy of your certificate. You must participate in the entire activity to receive credit. There is no fee to participate in this activity.

Course Viewing Requirements

Supported Browsers:
Internet Explorer 8.0+ for Windows 2003, Vista, XP, Windows 7, Windows 8.1 and above
Google Chrome 28.0+ for Windows, Mac OS, or Linux
Mozilla Firefox 23.0+ for Windows, Mac OS, or Linux
Safari 6.0+ for Mac OSX 10.7 and above

Supported Phones & Tablets:
Android 4.0.3 and above
iPhone/iPad with iOS 6.1 or above

Disclosure of Unlabeled Use

This educational activity may include discussion of uses of agents that are investigational and/or unapproved by the FDA. Please refer to the official prescribing information for each product for discussion of approved indications, contraindications, and warnings.


This course is designed solely to provide the healthcare professional with information to assist in his/her practice and professional development and is not to be considered a diagnostic tool to replace professional advice or treatment. The course serves as a general guide to the healthcare professional, and therefore, cannot be considered as giving legal, nursing, medical, or other professional advice in specific cases. AKH Inc. specifically disclaim responsibility for any adverse consequences resulting directly or indirectly from information in the course, for undetected error, or through participant's misunderstanding of the content.

Contact Information

If you have questions about this activity, please contact AKH Inc. at