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CME: Lysosomal Storage Disorders: Updates from recent research findings


Activity Description / Statement of Need:

In this online CME self-learning program:

Gaucher disease is characterized by a deficiency of the lysosomal enzyme glucocerebrosidase, resulting in the accumulation of sphingolipids throughout the body but most manifesting prominently in the bones. One of its first complications is the chronic anemia and a persistent bleeding risk. Another is the hepatosplenomegaly, which may be a part of the initial clinical presentation, as may the anatomical abnormalities of bone deformities and stunted growth.

Fabry disease is characterized by a deficiency of the glycoside hydrolase enzyme alpha galactosidase A, resulting in the accumulation of the glycolipid globotriaosylceramide throughout the body, particularly prominently in the blood vessels, which ultimately leading to multi-organ dysfunction and the patient’s premature death. Early symptoms, which occur during childhood, involve pain and may include Raynaud phenomenon, paresthesias, and arthralgia in the extremities and proximal limbs, as well as impaired gastrointestinal emptying, resulting in abdominal pain, diarrhea, early satiety, postprandial bloating, nausea, and vomiting. In adulthood, the disease’s impact spreads beyond and begins to affect the cardiac and renal systems.

Annual meetings of large, national, professional societies offer an opportunity for HCPs to get a first glimpse at study results that have the potential to impact practice as provide a forum for an exchange of ideas and practices between thought leaders and less distinguished practitioners. Nevertheless, many HCPs will be unable to attend these conferences, justifying the creation of CME that summarize the major findings presented at these major meetings.

Target Audience:

HCPs including: MD specialists, pediatricians, primary care physicians; geneticists; physician assistants, nurse practitioners, nurses, and pharmacists; and any other HCPs with an interest in or who may clinically encounter patients with Lysosomal Storage Disorders.

Commercial Support Disclosure: This program is supported by educational grants from Sanofi Genzyme. 

Learners may participate in this activity free of charge.

Release Date: August 27, 2020 -- Expiration Date: August 27, 2022

Faculty: Neil Weinreb, MD FACP



  • Faculty member introduction, disclosures, overview of Lysosomal Storage  Disorders (including but not limited to: Fabry disease, Pompe disease, Gaucher disease, Hunter syndrome, MPS I)
  • Major recent research findings, including clinical trial data relevant to both community and health-system practice and recognized barriers to implementing those findings in practice
  • Patient cases
  • Concluding remarks

Learning Objectives

By the end of the session the participant will be able to:

  • Recall the clinical manifestations of representative lysosomal storage disorders (LSDs).
  • Describe how enzyme replacement therapy (ERT) is being improved to address unmet therapeutic needs.
  • List emerging therapies for patients with LSDs who have previously been treated with ERTs and apply them to patient cases.
  • Discuss the findings of trials of gene replacement therapy particularly for LSDs that affect the central nervous system (CNS).


ACCME Activity #201540530


Faculty Disclosure and Resolution of COI

As a provider of continuing medical education, it is the policy of ScientiaCME to ensure balance, independence, objectivity, and scientific rigor in all of its educational activities. In accordance with this policy, faculty and educational planners must disclose any significant relationships with commercial interests whose products or devices may be mentioned in faculty presentations, and any relationships with the commercial supporter of the activity. The intent of this disclosure is to provide the intended audience with information on which they can make their own judgments. Additionally, in the event a conflict of interest (COI) does exist, it is the policy of ScientiaCME to ensure that the COI is resolved in order to ensure the integrity of the CME activity. For this CME activity, any COI has been resolved thru content review ScientiaCME.

Faculty Disclosure: Neil J. Weinreb, MD, FACP, Voluntary Associate Professor of Human Genetics and Medicine (Hematology), University of Miami Miller School of Medicine, is a Medical/Scientific advisory board member for Genzyme - Sanofi, Shire HGT and Pfizer for which he has received honoraria. Consulting for Genzyme-Sanofi, Pfizer; Research support from Genzyme-Sanofi, Shire HGT.

Disclosures of Educational Planners: Charles Turck, PharmD, BCPS, BCCCP has no relevant financial disclosures.

Commercial Support Disclosure: This program is supported by educational grants from Sanofi Genzyme 


  • Read the learning objectives above
  • Take the Pre-Test (optional). Completion of the pre-test will help us evaluate the knowledge gained by participating in this CME activity.
  • View the online activity. You may view this is in more than one session, and may pause or repeat any portion of the presentation if you need to.
  • Minimum participation threshold: Take the post-test. A score of 70% or higher is required to pass and proceed to the activity evaluation.
  • Complete the activity evaluation and CME registration. A CE certificate will be emailed to you immediately.

Cultural/Linguistic Competence & Health Disparities

System Requirements

Windows 7 or above
Internet Explorer 8
*Adobe Acrobat Reader
Mac OS 10.2.8
Safari or Chrome or Firefox
*Adobe Acrobat Reader
Internet Explorer is not supported on the Macintosh

*Required to view Printable PDF Version

Perform Pre-Test (optional)

Please take a few minutes to participate in the optional pre-test. It will help us measure the knowledge gained by participating in this activity.

Additional Courses That Are Related To This Activity

Advances in the management of Fabry disease

Treatment strategies in Fabry disease

Fabry disease: Updates from recent research findings

Gaucher disease: Updates from recent research findings