Improving Diagnosis and Enhancing the Standard Care for Pompe Disease

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Overview / Abstract:

TARGET AUDIENCE: The intended audience is inherited metabolic disease specialists, lysosomal storage disorder specialists, clinical geneticists, genetic counselors, cardiologists, hepatologists, neuromuscular specialists, neurologists, internal medicine, primary care providers, physician assistants and other HCPs involved in the diagnosis and management of Pompe disease
PROGRAM OVERVIEW: Pompe disease (PD) is a rare lysosomal storage disorder for which early diagnosis and treatment intervention with enzyme replacement therapy (ERT) are key to successful patient outcomes. This 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.
LEARNING OBJECTIVES:
Upon completion of this activity, participants should be able to:
• Describe the varying multisystem clinical manifestations of Pompe Disease, particularly late-onset PD, to facilitate diagnosis
• Define genetic and biologic tests necessary to confirm a differential of PD in patients with a positive NBS and/or who are exhibiting symptoms
• Assess the efficacy and safety of new and conventional ERT formulations for PD
• Implement individualized treatment initiation and management plans, focusing on LOPD clinical scenarios
• Discuss strategies to engage in multi-disciplinary supportive care to optimize outcomes for individuals with PD and their families

Expiration

Apr 14, 2023

Discipline(s)

Physician CME

Format

Online

Credits / Hours

1.25

Accreditation

ACCME

Presenters / Authors / Faculty

Priya S. Kishnani, MD
David F. Kronn, MD, FACMG
Kenneth Berger, MD

Sponsors / Supporters / Grant Providers

Sanofi Genzyme

Keywords / Search Terms

Relias LLC Relias LLC Relias LLC., FreeCME., Pompe Disease Free CE CME Free CE CME

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