Care gaps reported in late-onset Pompe disease
By Laura Boyd
Despite available treatments, adults with late-onset Pompe disease (LOPD) continue to face prolonged diagnostic journeys and unmet supportive care needs, according to a patient survey published in the Journal of Patient Experience.1 The exploratory cross-sectional study surveyed 20 adults from the UK and USA using an online questionnaire to assess diagnostic pathways, treatment experiences, impact on daily life, and healthcare interactions.
Prolonged diagnostic journeys remain common
Survey findings showed prolonged delays between symptom onset and diagnosis, with an average delay exceeding 9 years. Further results showed that:
- Nearly 25% of respondents reported waiting 10–20 years for a correct diagnosis
- 15% experienced delays of more than 20 years
- Participants consulted an average of 4.6 healthcare professionals (HCPs) prior to diagnosis
- 75% experienced at least one misdiagnosis before receiving a confirmed diagnosis
Limited awareness of LOPD among HCPs emerged as a key contributing factor, with all respondents reporting challenges related to insufficient disease recognition and inefficient referral pathways.
Treatment satisfaction alongside ongoing burden
Patients reported widespread use of enzyme replacement therapy (ERT; 90%) and expressed overall satisfaction with treatment (70%), with minimal treatment-related discomfort.
Despite treatment, daily impact remained substantial, with over half (55%) reporting moderate limitations and nearly half (45%) severe impairment. Respiratory symptoms and pain were common, and many patients reported using additional non‑pharmacologic approaches to manage symptoms.
Gaps in communication and psychosocial support
Respondents described variable communication with HCPs and confidence in provider understanding of LOPD. Psychological support emerged as a key unmet need, as many participants reported anxiety related to disease progression and uncertainty about the future. Only 20% rated psychological support as “very adequate.”
Participants also reported a need for improved access to educational resources, better coordinated care, and opportunities to engage in research and clinical trials.
Implications for care delivery
Overall, the findings highlight persistent shortcomings in diagnosis, care coordination, and access to supportive services for adults with LOPD. The authors highlight the importance of strengthening HCP education, clarifying referral pathways, and integrating multidisciplinary support to help reduce patient burden and improve care delivery.
Although limited by sample size and limited geographic scope, the study offers valuable patient-reported insights that may inform future efforts to optimize care delivery and enhance quality of life for people living with LOPD.
Reference
Gallarda, 2026. Patient perspectives on late-onset Pompe disease: Insights from a 2025 patient snapshot survey on diagnosis, treatment, and quality of life. https://doi.org/10.1177/23743735261433788
Developed by EPG Health for Medthority, independently of any sponsor.
