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Pompe disease is a rare, progressive and multisystemic disease. The heterogeneous presentation of the disease varies by: age of onset; organ involvement; degree and severity of muscle damage; rate of progression and response to the approved therapy (recombinant human acid-alpha glucosidase alglucosidase alfa); and other approaches to disease management. Here, we describe the framework of an ongoing study evaluating the patient burden, unmet needs and evolving management landscape for patients living with Pompe disease in the UK from the perspective of patients and healthcare providers (HCPs). The objective of the study was to better understand the experiences of patients living with Pompe disease in the UK, including diagnostic and treatment journeys and potential impact of the disease on quality of life (QoL). In-depth qualitative interviews were conducted with patients living with Pompe disease (n=30) and with HCPs specializing in the treatment of Pompe disease (physicians and nurse practitioners; n=10) from lysosomal disorder centres across England. The results of these interviews provide insight into the patient journey and burden of disease, with a focus on: the disease onset and progression; impact of diagnosis on daily life; emotional and physical wellbeing; current treatment satisfaction; and unmet needs. The study also assesses the impact of COVID-19 on patients’ lives, their interactions with HCPs, and care received during the pandemic. Findings from patients and HCPs further characterize challenges faced by people living with Pompe disease (eg delays in diagnosis and/or treatment initiation, treatment satisfaction) and the impact of these challenges on daily life. Understanding the discordance between the perspectives of patients and HCPs provides additional insight into possible strategies for further management approaches to improve outcomes, including QoL, for individuals living with Pompe disease.