Changing Tides in the Management of ASMD: Emerging Treatments and Strategies to Improve Diagnosis

Target Audience
This activity is intended for medical geneticists, genetic counselors, metabolic disease specialists, as well as pediatricians, family medicine providers, pulmonologists/respirologists, neurologists, hepatologists, and other specialty HCPs who may diagnose or manage ASMD/Nieman Pick.

Program Overview
Acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease, is a rare autosomal recessive lysosomal storage disorder (LSD) which can be challenging to diagnose and manage. This activity will offer access to the latest information and best practices to facilitate the early recognition of signs and symptoms and accurate diagnosis of ASMD. Furthermore, faculty will explore evolving evidence on emerging therapies and their potential role within current ASMD management approaches, as well as strategies for improved care coordination and opportunities to support patients and their families.

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

Identify symptoms and clinical manifestations associated with acid sphingomyelinase deficiency (ASMD), considering multiple organ systems, age of onset, and disease heterogeneity
Describe appropriate steps to differentially diagnose the clinical types of ASMD, including the role of biochemical testing, genetic testing, and referrals to genetics specialists
Explain the clinical roles of supportive care in the management of patients with ASMD
Evaluate the latest evidence on emerging treatments for patients with ASMD and potential clinical implications
Recognize resources and strategies to provide ongoing education and support to individuals with ASMD and their families