The Survival Era: Evolving Strategies for the Care of Patients with Pompe Disease


Pompe disease (PD) is critical to recognize early in patients, whether infantile (IOPD) or late onset (LOPD), but it can be challenging to detect. Once patients are identified, determining the optimal approach to vital enzyme replacement therapy (ERT) remains a multifactorial challenge. But promising new therapies are emerging to address unmet needs in PD, unearthing new potential and considerations for its management. In this activity, Drs Mozaffar, Kronn, and Biliciler provide evidence-based insight into best practices to optimize the recognition and clinical management of IOPD and LOPD.

Target Audience

This activity is designed to meet the educational needs of pediatric and adult neurologists, geneticists, cardiologists, pediatricians, family medicine physicians, advanced practice professionals representing these fields, and other healthcare professionals involved in the care of patients with PD.

Learning Objectives

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

  • Identify the optimal diagnostic algorithms to confirm newborn screening (NBS) results, and recognize the spectrum of early signs and symptoms of PD in patients without NBS to obtain an early and accurate diagnosis in patients with both IOPD and LOPD
  • Evaluate the appropriate prompts (e.g., elevated creatine kinase, muscle weakness) for and timing of ERT initiation in patients with LOPD to inform long-term treatment planning for this population
  • Discuss patient selection for and phase 3 data with recently approved and emerging ERT strategies to better determine the current and/or potential future role of these agents
Course summary
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Tahseen Mozaffar, MD
Professor of Neurology and Pathology
Director, Division of Neuromuscular Disorders
Director, UC Irvine MDA-ALS and Neuromuscular Center
University of California, Irvine
Irvine, CA


David F. Kronn MD, FACMG
Section Chief of Medical Genetics and Director,
Inherited Metabolic Disease Center
Westchester Medical Center
Associate Professor, Pathology and Genetics
New York Medical College
Valhalla, NY

         Suur Biliciler, MD
         Co-Director, Muscle and Nerve Laboratory
         Program Director, Adult Neurology Residency Program
         Associate Professor, Neurology
         UT Health Science Center at Houston,
         McGovern Medical School
         Houston, TX

Credit for this program has expired. The accreditation information below is based on the activity release date.

This activity is jointly provided by Medical Education Resources (MER) and Efficient LLC.


Accreditation Statement

In support of improving patient care, MER 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.


Designation Statement

Physician Credit

MER designates this enduring activity for a maximum of 1.0 AMA PRA Category 1 CreditTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Disclosure of Conflict of Interest


MER requires instructors, planners, managers, and other individuals who are in a position to control the content of this activity to disclose any real or apparent conflict of interest (COI) they may have as related to the content of this activity. All relevant financial relationships have been mitigated by MER. MER is committed to providing its learners with high quality activities and related materials that promote improvements or quality in healthcare and not a specific proprietary business interest of a commercial interest.

Planners’ and Managers’ Disclosure

MER planners and managers have nothing to disclose. Efficient LLC planners and managers have nothing to disclose.

Faculty Disclosures

Dr. Biliciler reported no relevant financial relationships.

Dr. Kronn reported the following financial relationships:

  • Grants/Research Support: Sanofi
  • Consulting Fees: AskBio, Sanofi
  • Speakers’ Bureau: Sanofi, Spark Therapeutics

Dr. Mozaffar reported the following financial relationships:

  • Grants/Research Support: Alexion, Amicus, Argenx, Audentes, Bristol-Myers-Squib, Cartesian Therapeutics, Grifols, Momenta, the Muscular Dystrophy Association, Myositis Association, the National Institutes for Health, Ra Pharmaceuticals, Sanofi-Genzyme, Spark Therapeutics, UCB, and Valerion
  • Consulting Fees: Abbvie, Acceleron, Alexion, Amicus, Argenx, Audentes, Avexis, Maze Therapeutics, Momenta, Myositis Association, Neuromuscular Disease Foundation, Myasthenia Gravis Foundation of California, Myasthenia Gravis Foundation of America, the NIH, Ra Pharmaceuticals, Sanofi-Genzyme, Sarepta, Spark Therapeutics, UCB, Ultragenyx, and Zogenix
  • Speakers’ Bureau: Sanofi-Genzyme.

Disclosure of Unlabeled Use

This educational activity may contain discussion of published and/or investigational uses of agents that are not indicated by the FDA. The planners of this activity do not recommend the use of any agent outside of the labeled indications. The opinions expressed in the educational activity are those of the faculty and do not necessarily represent the views of the planners. Please refer to the official prescribing information for each product for discussion of approved indications, contraindications, and warnings.


Participants have an implied responsibility to use the newly acquired information to enhance patient outcomes and their own professional development. The information presented in this activity is not meant to serve as a guideline for patient management. Any procedures, medications, or other courses of diagnosis or treatment discussed or suggested in this activity should not be used by clinicians without evaluation of their patient's conditions and possible contraindications and/or dangers in use, review of any applicable manufacturer's product information, and comparison with recommendations of other authorities.

Commercial Support

This activity is supported by an educational grant from Sanofi.


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