Description

Complimentary CE Activity

Tuesday, April 12, 2022
12:45-2:15 pm ET

Room: Suwannee 19-21
Lunch will be served

Priya S. Kishnani, MD (Chairperson)
C.L. and Su Chen Professor of Pediatrics
Medical Director, YT and Alice Chen Pediatrics Genetics and Genomics Center
Division Chief, Medical Genetics
Professor of Molecular Genetics and Microbiology
Duke University Medical Center
Durham, NC

Kenneth I. Berger, MD
Professor, Departments of Medicine, Neuroscience, and Physiology
NYU Grossman School of Medicine
New York, NY

David Kronn, MD, FACMG
Director, Advanced Medical Genetics, APS and Section Chief, Medical Genetics
Westchester Medical Center
Associate Professor of Pathology and Pediatrics
New York Medical College
New York, NY

ACTIVITY 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 discussed alongside decision-making strategies for ERT initiation, selection, and ongoing management. Finally, multidisciplinary strategies for monitoring disease progression and enhancing supportive care will be discussed.

TARGET AUDIENCE- Inherited metabolic disease specialists, lysosomal storage disorder specialists, clinical geneticists, genetic counselors, cardiologists, hepatologists, neuromuscular specialists, neurologists, internal medicine, primary care providers, and other HCPs involved in the diagnosis and management of Pompe disease

This program is jointly provided by AKH Inc., Advancing Knowledge in Healthcare and Catalyst Medical Education, LLC.

This activity is supported by an educational grant from Sanofi Genzyme.