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

BACKGROUND: Acid Sphingomyelinase Deficiency (ASMD) is an ultra-rare autosomal recessive lysosomal storage disorder characterized by intracellular lipid accumulation resulting from 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: Caregivers 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 caregivers 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 qualitative data was analyzed using an inductive thematic approach. RESULTS: Ten eligible participants completed questionnaires, and 8 of the 10 went on to participate in structured interviews. Symptom burden of ASMD and impact on symptomatology and quality of life after olipudase alfa use are reported here. 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 extensive unmet need for patients and families living with ASMD.

How the COVID-19 crisis affected the well-being of nurses working in paediatric critical care: A qualitative study.

OBJECTIVES: Evidence shows paediatric critical care (PCC) nurses display high rates of burnout, moral distress, symptoms associated with post-traumatic stress disorder (PTSD) and poor well-being. The COVID-19 pandemic magnified these pressures producing extremely challenging working conditions. The objective was to understand PCC nurses' lived experience of working during COVID-19 to determine the impact it had on their well-being. DESIGN: A qualitative design was used with individual, semi-structured online interviews analysed using thematic analysis. RESULTS: Ten nurses from six PCC units in England participated. Five themes were generated: (i) Challenges of working in Personal Protective Equipment (PPE), (ii) Adapting to redeployment to adult intensive care, (iii) Changes to staff working relationships, (iv) Being unable to attain work-life balance and (v) Unprocessed traumatic experiences of working in COVID-19. It was clear COVID-19 presented novel challenges to PCC nurses' well-being. With those came enforced changes in practice; some were temporary, for example use of PPE and redeployment, but others provided insight into the prerequisites for good staff well-being, for example strong professional relationships, work-life balance and managing one's psychological health. CONCLUSIONS: Findings show authentic connections between peers, verbal and non-verbal communication and a sense of belonging were crucial to nurses' well-being. A dent in PCC nurses' perceived competence significantly affected their well-being. Finally, staff need a psychologically safe space to process distress and trauma experienced during COVID-19. Future research needs to test evidence-based, theoretically-informed well-being interventions to improve and maintain PCC nurses' well-being.