Exploring New Treatment Advances for Acid Sphingomyelinase Deficiency in Adults

STATEMENT OF NEED

Acid sphingomyelinase deficiency (ASMD) is a rare, hereditary lysosomal storage disease with multisystemic manifestations, including splenomegaly, hepatomegaly, interstitial lung disease, dyslipidemia, bone marrow and lymph node involvement, and sometimes neurological and peripheral nerve involvement. While the most severe form of ASMD, infantile neurovisceral ASMD, results in death in early childhood, chronic forms of ASMD have more prolonged survival but are associated with substantial morbidity and reduced life expectancy. Outcomes for adults with chronic ASMD are affected by diagnostic delays that in turn delay monitoring and management of ASMD manifestations (Wasserstein et al, 2019). Furthermore, while treatment of ASMD has until now been solely supportive in nature, an acid sphingomyelinase (ASM) enzyme replacement therapy has recently been approved, presenting the first opportunity to address the pathology underlying this condition (US Food & Drug Administration, 2022). This activity chaired by Dr. Neal Weinreb, Voluntary Associate Professor for Human Genetics at the University of Miami Miller School of Medicine, will provide expert perspectives on current challenges and new opportunities in the management of ASMD in adults.

TARGET AUDIENCE

Metabolic disease specialists, medical geneticists, pulmonologists, hepatologists, gastroenterologists, neurologists, hematologists, primary care physicians, nurse practitioners, physician assistants, nurses, pharmacists, and other health care professionals involved in the treatment of patients with acid sphingomyelinase deficiency (ASMD).

LEARNING OBJECTIVES

Upon completion of this activity, participants should be able to
Assess the clinical presentation and diagnostic workup of chronic ASMD in adults
Evaluate the mechanism of action, efficacy, and safety of ASM enzyme replacement therapy for chronic ASMD in adults as elucidated by recent clinical trials
Monitor and manage the multisystemic manifestations of ASMD
Counsel patients on supportive services for patients with ASMD, including social services, genetic counseling, family counseling, and patient/caregiver support groups