Pursuing More
Effective Diagnosis
and Treatment of

POMPE DISEASE:

Applying New Advances
Into Practice

This Learning Center is a freely accessible educational platform for healthcare providers who may be involved in the identification and management of patients with Pompe Disease (PD). Our goal is to ensure that you – the practicing clinician – have access to the most accurate, up-to-date information for the treatment of patients with PD.

We encourage you to share this educational resource with your colleagues and your healthcare team.

CME Courses

Courses

Moving Forward in Pompe Disease: Optimizing Outcomes in an Era of Next-Generation Therapies and Advanced Newborn Screening

Proceedings from a Symposium at the 2023 Muscular Dystrophy Association (MDA) Meeting

Credit Available: 1.0 AMA PRA Category 1 Credit(s)™

There has been significant progress in the treatment paradigms for Pompe disease (PD) in recent years with the approval of a second-generation enzyme replacement therapy (ERT) and another agent undergoing regulatory review. Additionally, growing access to newborn screening (NBS) is allowing for earlier diagnosis, particularly for individuals with late-onset PD (LOPD). As a result, treatment decision-making is becoming more complex. This activity will discuss the latest clinical data on second-generation ERTs and how they may address limitations of first-generation ERT, methods for assessing disease progression and severity to inform management decision-making, and case presentations across the spectrum of PD onset and severity. Also, management considerations relating to the expansion of NBS programs will be explored, particularly as they relate to early diagnosis and early ERT initiation.

Managing Late-Onset Pompe Disease in the Era of Newborn Screening: Considerations for Disease Monitoring and ERT Initiation

Proceedings from a Symposium at the 2023 Society of Inherited Metabolic Disorders Association (SIMD)

Credit Available: 1.25 AMA PRA Category 1 Credit(s)™

The expansion of newborn screening (NBS) for Pompe disease has led to a new understanding of the greater prevalence of Pompe disease and an appreciation of earlier symptom onset in patients with late-onset variants. Symptoms can now be addressed at the earliest stages with careful monitoring, and the emergence of next-generation enzyme replacement therapy (ERT) offers clinicians the ability to prevent further disease progression. This activity will provide insights and discuss considerations around when to initiate ERT in patients diagnosed via NBS and the appropriate use of second-generation ERT.

Exploring Next Generation ERTs for Pompe Disease: Strategies for Individualized Treatment Decisions

Proceedings from a Symposium at the 2022 Society for Inherited Metabolic Disorders (SIMD) Meeting

This activity will focus on practical strategies to recognize and diagnose Pompe disease, considering the lack of universal newborn screening. Presenters will further discuss the role of enzyme replacement therapy (ERT), highlighting considerations for treatment decision-making and disease monitoring considering the availability of next-generation ERT formulas.

Improving Diagnosis and Enhancing the Standard of Care for Pompe Disease

Proceedings from a Symposium at the 2022 American College of Medical Genetics and Genomics (ACMG) Meeting

This activity will discuss strategies to recognize clinical presentations suggestive of Pompe disease, particularly in the absence of newborn screening, and the necessary steps for diagnosis. The clinical utility of next-generation enzyme replacement therapy (ERT) will be examined, and faculty presenters will discuss ERT decision-making strategies in the context of multidisciplinary care.

Mitigating Disease Progression in Pompe Disease: Optimizing Early Diagnosis and Considering New Therapies to Improve Outcomes

Proceedings from a Symposium at the 2022 WORLD Symposium

Credit Available: 1.5 AMA PRA Category 1 Credit(s)™

This activity will review strategies to enhance timely diagnosis of Pompe disease to improve access the therapies. Faculty presenters will focus on the latest clinical data of new enzyme replacement therapies to address patient unmet needs, as well as cover advances in methods to monitor disease progression to inform management decision-making.

[Accreditation has expired. For informational purposes only.]

Clinical Cases in Pompe Disease: Optimizing Early Diagnosis and Considering New Therapies to Improve Outcomes

Proceedings from a Symposium at the 2022 WORLD Symposium

Credit Available: 0.5 AMA PRA Category 1 Credit(s)™

This case-based activity will discuss the keys to recognizing clinical presentations suggestive of PD, particularly in the absence of newborn screening, and the necessary steps for diagnosis. The clinical utility of ERT and the role of next-generation formulations will be examined alongside decision-making strategies for ERT initiation, selection, and switching. Finally, multidisciplinary strategies for monitoring disease progression and enhancing supportive care will be discussed.