Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replace therapy for acid sphingomyelinase deficiency

Abstract

Abstract Background: Acid Sphingomyelinase Deficiency (ASMD) is an ultra-rare autosomal recessive lysosomal storage disorder characterized by intracellular lipid accumulation because of the reduced function of acid sphingomyelinase. Olipudase alfa, an enzyme replacement therapy, was recently approved in several countries for the treatment of the non-neurologic manifestations of ASMD. Studies demonstrate improvement in organomegaly, pulmonary function and lipid profiles with olipudase alfa, yet little is known about its impact on quality of life (QoL) for patients and caregivers. The purpose of this study is to better understand the real-life impact of ASMD on patients and caregivers and assess how olipudase alfa impacts QoL for pediatric patients and their caregivers. Methods: Parents of pediatric patients (≤ 18 years of age) with a confirmed diagnosis of ASMD that received olipudase alfa for at least 12 months were recruited in early 2022 through national patient organizations to participate in a global online questionnaire followed by semi-structured interviews. Ten parents of patients with ASMD who utilized olipudase alfa as an experimental therapy for pediatric patients participated in the study. Quantitative analysis of the results was undertaken and interview transcripts were analyzed using an inductive thematic approach. Results: Five themes emerged from analysis: (1) ASMD is a systemic disease with a wide array of manifestations that significantly impact QoL. (2) Olipudase alfa was associated with improvements in all non-neurologic manifestations of ASMD. (3) Participants perceived the risk associated with olipudase alfa to be low and the benefits to greatly outweigh any risk or burden. (4) Participants reported an unmet need to treat the neurologic manifestations of the disease despite the benefits of olipudase alfa in the management of non-neurological symptoms. (5) Participants felt all patients with ASMD need access to olipudase alfa based on the life-changing experience they perceived. Conclusions: These findings highlight the sustained positive impact olipudase alfa had in many domains that are deemed important to patients and families living with ASMD and outline the significant unmet need for patients and families living with ASMD.