Transforming the Course of Pompe: Advancements in the Care of Evolving Phenotypes for Patients With Late-Onset Disease
Program Description
Newborn screening (NBS) for Pompe disease (PD) enables earlier diagnosis and life-saving treatments, revealing a higher prevalence than previously known. This increases clinician awareness, crucial for those without NBS access, and extends life expectancy, especially for late-onset PD (LOPD), raising new long-term care questions.
While infantile-onset PD (IOPD) receives prompt treatment, LOPD patients face an unpredictable asymptomatic phase and unclear treatment guidelines. The multi-systemic nature of LOPD, revealed by extended life with enzyme replacement therapy (ERT), adds complexity. As therapies improve, it's vital to determine when to start treatment and monitor disease progression.
This activity allows learners to compare their practices with international experts, helping them reflect on their knowledge, identify deviations from best practices, and develop evidence-based strategies for optimal clinical decisions.
Target Audience
This activity is intended for pediatric and adult neurologists, geneticists, pediatricians, physician assistants, and other healthcare professionals involved in the diagnosis and long-term management of patients with Pompe disease.
Learning Objectives
Upon completion of the educational activity, participants should be able to:
- Identify optimal diagnostic algorithms with or without newborn screening (NBS) to obtain an early and accurate diagnosis in patients with late-onset Pompe disease (LOPD)
- Evaluate multisystemic signs and symptoms of LOPD progression to effectively monitor patients, promptly initiate enzyme replacement therapy (ERT), and respond to disease worsening
- Appraise mechanisms of action and phase 3 data of previously available and recently approved next generation ERTs to identify how and for whom these approaches may be integrated into current practice
- Describe the biologic rationale for and ongoing assessment of novel investigational therapies to proficiently counsel patients regarding trial participation and the potential future role of these agents in LOPD clinical management
Westchester Medical Center
Associate Professor, Pathology and Pediatrics
New York Medical College
Valhalla, New York, United States
Friedrich-Baur Institute
Ludwig Maximilian University of Munich
Munich, Germany
Cincinnati Children’s Hospital and
University of Cincinnati School of Medicine
Cincinnati, Ohio, United States
This activity is jointly provided by Medical Education Resources (MER) and Efficient LLC.
Accreditation Statement
In support of improving patient care, this activity has been planned and implemented by Medical Education Resources (MER) and Efficient LLC. 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
Disclosure of Relevant Financial Relationships
Medical Education Resources ensures balance, independence, objectivity, and scientific rigor in all our educational activities. In accordance with this policy, MER identifies relevant financial relationships with its instructors, content managers, and other individuals who are in a position to control the content of an activity. Reported relevant financial relationships are mitigated by MER to ensure that all scientific research referred to, reported, or used in a CE activity conforms to the generally accepted standards of experimental design, data collection, and analysis. MER is committed to providing learners with high-quality CE activities that promote improvements or quality in health care and not the business interest of an ineligible company.
Planners' and Managers' Disclosure
Efficient LLC and Medical Education Resources' planners and managers have no financial relationships to disclose.
Faculty Disclosure
Dr Kronn reported the following financial relationships:
- Consultant or advisor for: Sanofi, AskBio
- Speaker or member of speakers bureau for: Spark Therapeutics, Sanofi
- Research funding from: Sanofi
Dr Schoser reported the following financial relationships:
- Consultant or advisor for: Amicus, Astellas, Roche Diagnostics
- Speaker or member of speakers bureau for: Amicus, ArgenX, Astellas, Sanofi, Taysha
- Research funding from: Alexion, Kedrion
Dr Peña reported the following financial relationships:
- Consultant or advisor for: CVS Caremark, University of Pennsylvania
- Research funding from: Cyclo Therapeutics, Moderna Inc., Zevra
Disclosure of Unlabeled Use/Disclaimer
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.
Disclaimer
The content and views presented in this educational activity are those of the authors and do not necessarily reflect those of Medical Education Resources, Efficient LLC, and/or Amicus Therapeutics Inc. The authors have disclosed if there is any discussion of published and/or investigational uses of agents that are not indicated by the FDA in their presentations. Before prescribing any medicine, primary references and full prescribing information should be consulted. 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 on dangers in use, review of any applicable manufacturer’s product information, and comparison with recommendations of other authorities. The information presented in this activity is not meant to serve as a guideline for patient management.
Method of Participation
Media
Internet
Commercial Support
This continuing education activity is supported by an educational grant from Amicus Therapeutics Inc.
Available Credit
- 1.00 AAPA Category I CME
- 1.00 AMA PRA Category 1 Credit™
- 1.00 Attendance