Exploring New Treatment Advances for Acid Sphingomyelinase Deficiency in Adults

Exploring New Treatment Advances for Acid Sphingomyelinase Deficiency in Adults is organized by i3 Health and will be held from May 15, 2023 - Apr 14, 2024.

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.

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

Faculty:
Neal Weinreb, MD
Voluntary Associate Professor for Human Genetics
University of Miami
Miller School of Medicine

In this activity, explore new treatment advances for acid sphingomyelinase deficiency (ASMD) in adults with Neal Weinreb, Voluntary Associate Professor for Human Genetics at the University of Miami, Miller School of Medicine. Learn about diagnosis, counseling points, and the recent approval of the first acid sphingomyelinase (ASM) enzyme replacement therapy, which presents the first opportunity to address the pathology underlying this condition. Start the activity now!