VP.32 Living with Pompe disease in the UK: characterising the patient journey; burden on physical and emotional quality of life; and impact of COVID-19

Abstract

Pompe disease is a rare, progressive, multisystemic disease. We evaluated the burden, unmet needs and management landscape of people living with late-onset Pompe disease (LOPD) based on their own experiences and the opinions of healthcare professionals (HCPs). The objectives were to better understand the experiences of LOPD patients in the UK, including their diagnostic and treatment journeys; the impact of LOPD on quality of life; their experiences during the COVID-19 pandemic; and the concordance between patients' and HCPs' perceptions of living with LOPD. In-depth qualitative interviews were conducted with 27 participants living with LOPD (male, n=13 [48%]; mean age, 56 years; mean age at diagnosis, 43 years). Interviews revealed that the diagnostic process was typically long and distressing, with most participants emphasising a desire for reduced times to diagnosis, referral to a specialist and treatment initiation. The most frequently reported LOPD-associated symptoms were walking difficulties (n=27, 100%) and fatigue (n=26, 96.3%). For many participants, the COVID-19 pandemic has been a period of increased anxiety and physical deterioration. In-depth qualitative interviews were also conducted with 8 HCPs (specialist nurses, n=4; metabolic consultants, n=2; cardiologist, n=1; physiotherapist, n=1): although HCPs had similar views to patients of the challenges of living with LOPD and patients' unmet needs, their responses suggested a reduced awareness of the acute emotional changes experienced by patients at different stages of the disease journey. HCPs emphasised the need to manage patients' expectations around available therapies, and that the increased use of technology in consultations and treatment was a positive outcome of the COVID-19 pandemic. Findings from this study further characterise the challenges faced by people living with LOPD, particularly during the COVID-19 pandemic.