The intended audience is U.S. clinical geneticists, clinical laboratory genticists, genetic counselors, pediatricians, pediatric neurologists, hepatologists, cardiologists, internal medicine providers, primary care clinicians, physician assistants and other health care providers who may be involved in the diagnosis and management fo ASMD
Acid sphingomyelinase deficiency (ASMD) is a rare, progressive lysosomal storage disorder with no approved disease-specific therapy; supportive care and symptom management is the current standard of care. Emerging data on investigational enzyme replacement therapy (ERT) are showing effectiveness in mitigating non-neuronopathic symptoms of ASMD. This activity will discuss how to prompt and confirm a diagnosis of ASMD in patients. Emerging data on investigational treatments will be explored, with ways to consider clinical management that leads to optimal outcomes.
Upon completion of this activity, participants should be better able to: