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CME: Updates in the medical management of Pompe disease


Activity Description / Statement of Need:

In this online, self-learning activity:

Pompe disease (PD) is a progressive, often fatal, autosomal recessive, neuromuscular disorder caused by mutations of the α-glucosidase gene on chromosome 17. PD is characterized by glycogen accumulation in skeletal, cardiac and smooth muscles due to a deficiency in α-glucosidase (GAA), an important lysosomal enzyme responsible for glycogen catabolism. PD is categorized into three groups based on symptoms and age of onset. The classic infantile form presents in the first year of life, usually in the first two months, with hypertrophic cardiomyopathy. The non-classic infantile form presents later in the first year of life, without or with less severe cardiomyopathy. The late onset form of PD presents any time after one year of life, usually without cardiac complications.

PD is rare, with one study estimating the incidence in the U.S. to be 1 in 22,000 births. The biggest risk factor for the disease is genetics; at conception, each sibling of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being not a carrier. Nonspecific diagnostic findings for PD may include abnormal EMG, elevated serum creatine kinase, elevated transaminases and elevated lactate dehydrogenase. A definitive diagnosis for PD involves a dried blood spot test to determine GAA enzyme activity level; reduced GAA activity (less than 40% of normal) is indicative of a positive diagnosis. A gene mutation analysis, or another GAA enzyme test using a different area of tissue, is recommended to confirm the diagnosis. The disease is not uncommonly undiagnosed or is misdiagnosed, representing one practice gap that continued HCP education may address, particularly given that earlier treatment may minimize rapid and irreversible disease progression.

Target Audience:

The following HCPs: adult and pediatric neurologists, internists, and cardiologists; physician assistants and nurse practitioners in those areas of specialty; pharmacists who practice in specialty pharmacies that treat patients with rare diseases; and any other HCPs with an interest in or who may clinically encounter patients with PD.

Commercial Support Disclosure: This program is supported by an educational grant from Spark Therapeutics.

This activity is free of charge.

Release Date: April 29, 2022 -- Expiration Date: April 29, 2024

Faculty: Virginia Kimonis, M.D., MRCP


Introduction, Disclosures

Epidemiology of and risk factors for PD

  • Statistics
  • Age, genetics

Symptomology and diagnosis of PD

  • Pathophysiology, onset, and classification
  • Clinical features and disease presentation (infantile- vs. late-onset)
  • Differential diagnoses, screening & diagnostic tests, and diagnosis
  • Disease progression and complications

Treatment in patients with PD

  • Pharmacotherapy
  • Strategies and trends in recent years

·       Infantile-onset: ERT

·       Glc(4) measurement

·       Cross-reactive immunologic material status and anti-GAA antibodies

·       Immune tolerance induction

·       Late-onset

  • Supportive and general preventive care that benefit patients with PD
  • Best practice: Putting it all together
  • Patient case(s)

Summary, conclusions, and best practice recap

Learning Objectives

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

  • Describe the risks and consequences of mis- and underdiagnosis of PD
  • Recall strategies to improve recognition and diagnosis of PD
  • Discuss present approaches to treating PD
  • Formulate a care plan in the treatment of a patient with PD


ACCME Activity #202290041


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 by ScientiaCME.

Faculty Disclosure:

Virginia E. Kimonis, MD, MRCP, Professor, Dept. of Pediatrics, Division of Genetics and Genomic Medicine, Univ. of California, Irvine, has has no relevant financial disclosures.

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

Faculty will not discuss off-label uses.

All relevant financial relationships have been mitigated.

ScientiaCME adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CE activity, including faculty, planners, reviewers or others are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity.

Commercial Support Disclosure: This program is supported by an educational grant from Spark Therapeutics.


  • 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
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*Adobe Acrobat Reader
Mac OS 10.2.8
Safari or Chrome or Firefox
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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.

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