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


Clinical Management

Poster Number: Virtual


Derralynn Hughes, University College London, London, UK, Lisa Bashorum, Amicus Therapeutics, Marlow, UK, Allan Muir, Pompe Support Network, Buriton, Hampshire, UK, Jane Lewthwaite, Association for Glycogen Storage Disease (UK) Limited, Oldbury, UK, Neil Johnson, Amicus Therapeutics, Marlow, UK, Gerard McCaughey, Amicus Therapeutics, Marlow, UK, Peter Slade, Cobalt Research & Consulting, London, UK, Nita Patel, Amicus Therapeutics Inc., Philadelphia, PA, USA

Pompe disease is a rare, progressive, multisystemic disease with heterogenous presentation. We evaluated the burden, unmet needs and evolving management landscape for people living with late-onset Pompe disease (LOPD) based on their own experiences. The objective was to better understand the experiences of people living with LOPD in the UK, including their diagnostic and treatment journeys; the potential impact of LOPD on their quality of life; and the impact of COVID-19 on their lives, HCP interactions and the care they received. 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; received ?1 misdiagnosis, n=9 [33%]). An ongoing, online survey of people living with LOPD in the UK is expected to provide additional quantitative insights into peoples’ experiences and the impact of COVID-19. Interviews revealed that the diagnostic process was typically long and distressing, with most participants emphasizing a desire for reduced times to diagnosis, referral to a specialist and treatment initiation. The most frequent LOPD-associated symptoms mentioned by participants were walking difficulties (n=27, 100%), fatigue (n=26, 96.3%) and balance issues (n=22, 81.5%); participants stated the most important symptoms to treat were walking difficulties (n=15, 55.6%), fatigue (n=10, 37.0%) and breathing problems (n=10, 37.0%). For most participants, the COVID-19 pandemic has been a period of increased anxiety, low mood and physical deterioration. The results of these interviews provide an understanding of the emotional journey experienced by individuals living with LOPD in the UK and enabled the construction of a unique infographic visually representing an archetypal patient journey. Findings from this study further characterize challenges faced by people living with LOPD (eg delays in diagnosis and/or treatment initiation, treatment satisfaction) and the impact of these challenges on daily life. Supported by Amicus Therapeutics.