Late‑onset Pompe disease (LOPD) is a rare neuromuscular condition that can significantly affect mobility, breathing, and day-to-day activities. While treatments are available, people living with LOPD often face challenges around diagnosis and accessing consistent, coordinated care.
This patient snapshot survey involving adults with LOPD in the UK and the USA explored patients’ diagnostic journeys, treatment experiences, and the everyday impact of living with LOPD, drawing directly on patient‑reported perspectives.
Survey findings, published in the Journal of Patient Experience, showed that many participants experienced long delays between first symptoms and receiving a correct diagnosis, with 75% of respondents experiencing misdiagnoses. Nearly 25% of respondents reported waiting 10–20 years for a correct diagnosis, with delays averaging more than 9 years. Limited awareness of LOPD among healthcare professionals was also commonly reported, potentially contributing to fragmented diagnostic pathways.
Although most patients reported satisfaction with their current treatment, many continued to experience pain, breathing difficulties, and uncertainty about disease progression, alongside unmet psychological and informational support needs.
The findings from this survey highlight persistent gaps in the diagnosis and long‑term management of LOPD. Prolonged diagnostic journeys can delay access to appropriate care, increase disease burden, and place additional emotional strain on patients and their families. Limited awareness of LOPD among non‑specialist healthcare professionals remains a key barrier to timely referral and coordinated care.
The survey underscores the importance of improving education and awareness of LOPD across healthcare settings, particularly in primary care and neurology, where patients may present first with non-specific symptoms. Participants also highlighted the need for clearer communication, integrated multidisciplinary support, and improved access to psychological support and patient information.
By centering patient experiences, this research provides valuable insights into real-world care gaps in LOPD. These perspectives can help inform the development of future care pathways, support services, and educational initiatives aimed at improving outcomes and quality of life for people with LOPD.
