Patient Perspectives on Late-Onset Pompe Disease: Insights From a 2025 Patient Snapshot Survey on Diagnosis,Treatment,and Quality of Life

Abstract

Late-onset Pompe disease (LOPD) is a rare neuromuscular disorder, where delays in diagnosis can result in inconsistent patient management and suboptimal use of effective treatments, thereby increasing patient burden. We conducted an exploratory, cross-sectional survey of 20 adults with LOPD in the UK and USA, recruited via patient advocacy groups and vetted databases. Our results showed that patients with LOPD experienced substantial delays from symptom onset to diagnosis. Interactions with healthcare professionals (HCPs) were inconsistent, and LOPD awareness among HCPs was insufficient. Patients were generally satisfied with their treatment, with 90% of patients reporting mild to no discomfort with enzyme replacement therapy or other treatments. However, 60% of patients implemented various nonpharmacological therapies to manage pain or other aspects of LOPD. These exploratory findings highlight persistent gaps in diagnosis and care, emphasizing the need for improved HCP education and integrated support services.

Plain Language Title

Survey of Adult Patients With Pompe Disease Related to Their Diagnoses, Treatments, and Quality of Life

Plain Language Summary

Late-onset Pompe disease (LOPD) is a rare condition that affects muscles and nerves. This leads to symptoms such as muscle weakness, trouble breathing, and pain, and patients with this disease often have shorter life expectancies. While treatments exist, there are often significant delays in diagnosis and challenges in daily life. In our survey of 20 adults living with LOPD in the UK and USA, most participants waited years for a correct diagnosis and frequently experienced misdiagnosis and limited awareness of LOPD among healthcare professionals (HCPs). While most patients were satisfied with their enzyme replacement therapy, many reported ongoing pain and a need for better psychological support. Many highlighted the importance of improved communication with HCPs, easier access to information and support groups, and more opportunities to participate in research. These findings show that earlier recognition, coordinated care, and patient-focused support services are essential for improving the lives of people with LOPD.

Introduction

Late-onset Pompe disease (LOPD) is a rare, progressive neuromuscular disorder that affects daily life and healthcare interactions. While clinical features and treatments are well documented, patient experiences with diagnosis and long-term care are less explored. These perspectives can inform communication strategies, streamline referral pathways, and shape support services.

Despite available therapies and guidelines, patients often face prolonged diagnostic journeys and inconsistent care.^1–11 Previous studies focus on clinical outcomes—little is known about patient experiences with diagnosis, treatment, and healthcare systems.^2–5 Misdiagnosis is common before LOPD is recognized, compounding morbidity and reducing quality of life (QoL).^6–10 Enzyme replacement therapy (ERT) improves mobility and respiratory function, but QoL gains vary, highlighting the need to minimize delay and optimize treatment.^11–13

Our study provides preliminary insights into diagnostic delays, treatment satisfaction, and unmet needs to inform patient-centered care.

Methods

We performed a cross-sectional online survey of 20 adults (≥18 years) with self-reported LOPD residing in the UK or USA (UK, n = 10; USA, n = 10). Sample size was determined by budgetary constraints and the exploratory nature of the study; future research will target larger cohorts.

Selection Process and Sample Size

Participants were recruited through patient advocacy groups in the UK and vetted patient databases in the USA. Eligibility was confirmed via phone screening. All participants provided electronic informed consent.

Survey Instrument

The survey instrument was developed through a literature review and expert input to ensure content validity. It included structured and open-ended questions covering demographics, diagnostic history, treatment experiences, pain management, healthcare interactions, and informational needs. Complete details of the survey instrument are in the Online Appendix.

Data Collection and Analysis

Responses were collected over 4 weeks via a secure platform managed by Global Perspectives and its approved partners. Participation was voluntary with electronic informed consent; data were anonymized and handled in accordance with the General Data Protection Regulation (for UK participants) and applicable US privacy standards. Descriptive statistics summarized categorical variables as counts and percentages and continuous variables as mean ± standard deviation (SD) (with medians where relevant). No inferential comparisons were planned, given the small sample size and exploratory aim.

Results

Respondent Demographics

The survey was completed by 20 participants, balanced between location and sex (50% UK, 50% USA; 50% male, 50% female). Average age was 47.7 ± 12.7 years (median, 46 years; range, 31–71 years). Involvement in patient advocacy was reported by 60% of participants. Educational attainment was distributed across high school (35%), university (30%), and postgraduate/higher (35%). Income and further demographics are summarized in Table 1.

Table 1.

Demographics and Responses of Patients Surveyed (N = 20) for This Study.

Gender	Male	50%
	Female	50%
Location	UK	50%
	USA	50%
Average age ± SD (median)		47.7 ± 12.7 (46) years
Education	High school	35%
	University	30%
	Master's+	35%
Employment	Employed	50%
	Unemployed	30%
	Retired	20%
Income	<$26K <£20K	25%
	$26–52K £20–40K	15%
	$52–79K £40–60K	30%
	>$79K >£60K	25%
	Prefer not to answer	5%
Patient advocacy		60%
Age at symptom onset	Childhood (0–12)	20%
	Adolescence (13–18)	30%
	Early adulthood (19–39)	35%
	Middle adulthood (40–59)	10%
	Late adulthood (60+)	5%
Average age ± SD at diagnosis (median)		36.3 ± 13.8 (30) years
Average number ± SD of physicians seen from symptom onset to diagnosis (median)		4.6 ± 2.8 (3.5)
Average number ± SD of medications prescribed for LOPD prior to current treatment		2.6 ± 2.4 (2)
Currently used treatments or support services*	ERT	90%
	Combination therapy	10%
	Painkillers	55%
	Physical therapy	25%
	Gene therapy (clinical trial)	0%
	Other	15%
Pain management provided in relation to LOPD*	Pharmacological	60%
	Lifestyle changes	70%
	Physical therapy	40%
	Biotech/medical devices	20%
	Other	20%
Satisfied with the treatment provided		70%
Challenges encountered during LOPD treatment*	HCPs lack awareness of LOPD	100%
	Misdiagnosis	75%
	Treatment delay	35%
	Limited specialist availability	65%
	Other	10%
Additional support or resources that would help manage LOPD*	Improved access to treatment	40%
	Educational information	60%
	Support groups	70%
	Financial assistance	65%
	Other	15%
Resources used to stay informed about LOPD*	Search engines	70%
	Healthcare specialists	75%
	GP or primary physician	10%
	Medical websites	70%
	Social media	65%
	Other	20%

Abbreviations: ERT, enzyme replacement therapy; GP, general practitioner; HCP, healthcare professional; LOPD, late-onset Pompe disease.

*Questions for which it was possible to select multiple options.

Diagnosis and Treatment

Delays from symptom onset to diagnosis were substantial. Using age-cohort bins for symptom onset (childhood, adolescence, and early/middle/late adulthood), the best-case average delay exceeded 9 years (median, 8 years). Nearly 25% of respondents reported 10–20 years from first symptoms to diagnosis, and 15% reported >20 years. Average age at diagnosis was 36.3 ± 13.8 years (median, 30 years; range, 19–63 years). Delays were similar across age groups: the younger half (<46 years) averaged 8.7 years from symptom onset to diagnosis versus 9.7 years in the older half (≥46 years). Figure 1 depicts age at symptom onset and reported age at diagnosis. One participant described an “11-year diagnosis journey full of misdiagnosis,” adding, “Having to educate every single GP that I see about Pompe disease.” These narratives underscore the systemic gaps in awareness and referral pathways.

Figure 1.

Age cohort of symptom onset with percentages of respondents in each (childhood, 0–12 years; adolescence, 13–18 years; young adulthood, 19–29 years; middle adulthood, 30–59 years; and late adulthood, 60+ years) and reported age of LOPD diagnosis, with per-patient delays to diagnosis (straight lines) and box and whisker plot indicating range, quartiles, median, and mean of reported age at diagnosis data.

Impact on Daily Life, Breathing, and Pain

Participants reported pronounced functional burden despite access to treatment, with 55% describing a moderate impact of LOPD on daily life, and 45% severe impact. Breathing difficulties were common: 95% reported moderate to severe respiratory impact. Pain was also frequent, with 65% reporting moderate to severe pain levels.

Healthcare Provider Awareness and Misdiagnosis

All respondents highlighted limited awareness of LOPD among healthcare professionals (HCPs). Before diagnosis, participants consulted an average of 4.6 ± 2.8 clinicians (median, 3.5; range, 1–11). Misdiagnosis was reported by 75% of respondents. Constraints to specialist access (65%) and treatment delays (35%) were additional barriers. Respondents reported frustration with specialists, noting:

Neurologists that should be aware of new treatment options having no idea what they are. Doctors not having any clue what LOPD is. Doctors that have horrible people skills. Doctors that may be burnt out or not up to date on appropriate medical support (pulmonary, primarily).

Treatment Patterns, Discomfort, and Satisfaction

ERT was the most common therapy (90%), except for 2 participants who were not using it. Both were in the lowest income bands and reported severe daily life impact, but other outcomes were similar. Despite widespread ERT use, challenges with access and insurance compliance were noted:

Needing to educate each care provider about the disease is tiring and frustrating. Because of the cost of treatment, compliance of insurance companies can be difficult.

This reflects systemic barriers to continuity of care.

Combination therapy was reported by 15%, painkillers by 55%, and physical therapy by 25%; other supports included hydrotherapy and ventilation. Before the current regimen, participants had been prescribed an average of 2.6 ± 2.4 medications (median, 2; range, 1–11). Treatment-related discomfort was generally low: 50% reported none, 40% mild, and 10% moderate. Overall, 70% were satisfied with the treatment.

Pain management remained an unmet need: 25% rated it very effective; 55% somewhat effective; and 20% ineffective. Management approaches included pharmacological treatments (60%), lifestyle changes (70%), physical therapy (40%), and devices (20%); hydrotherapy was also cited.

The most common treatment-related challenges were low HCP awareness (100%), misdiagnosis (75%), limited specialist availability (65%), and treatment delays (35%). Regarding living circumstances, 80% lived with a partner and 20% alone. Caregiver assistance averaged 14.0 ± 16.9 h per week, provided by partners (55%), relatives (35%), friends (15%), adult children (15%), nurses (25%), paid caregivers (20%), and others (10%).

HCP Communication

HCP communication experiences were mixed: 40% rated communication as very effective and 40% as somewhat effective; 10% judged it mostly ineffective, and 10% completely ineffective. Confidence in provider understanding of LOPD varied: 30% felt confident, 20% felt HCPs understood most of the time, 25% half the time, 20% less than half, and 5% reported no HCP understanding.

Psychological Support and Information Needs

Uncertainty about disease progression emerged as a major psychological burden. One participant shared:

The hardest part is not knowing the future, the “unknowns,” which is the hardest psychologically. Sometimes I avoid doing activities due to anxiety of dealing with Pompe symptoms, or the inability to do things/keep up with “normal” people.

Psychological support was often insufficient: 20% rated support as very adequate, 40% somewhat adequate, 25% not very satisfactory, and 15% not acceptable. These findings emphasize the need for counseling and mental health support as part of comprehensive care.

To stay informed, respondents used healthcare specialists (75%), search engines (70%), medical websites (70%), social media (65%), general practitioners/primary physicians (10%), and other sources such as support groups/charity events (20%). While 20% felt they knew enough, 75% wanted to learn more, and 1 respondent lacked confidence in their knowledge. Explaining LOPD to others felt easy for 50%, mostly easy for 40%, and difficult for 10%. Patients expressed a strong desire for better access to research opportunities and clinical trials:

I would like to be more informed on future trials and how to access them.

This suggests a need for structured communication between clinicians, researchers, and patients to support informed decision-making.

Discussion

Our survey highlights persistent diagnostic delays, frequent misdiagnoses, and gaps in provider awareness for adults with LOPD. Diagnostic delays averaging over 9 years and frequent misdiagnoses emphasize the need for clearer referral pathways and improved awareness among primary care and neurology providers. ¹⁴ Findings underscore the importance of multidisciplinary care, HCP education, and structured communication to support timely diagnosis and holistic management. Limited understanding of LOPD often left patients feeling isolated and uncertain, reinforcing the need for proactive communication and educational resources. Most patients were satisfied with ERT; however, pain and psychological support remain unmet needs. Anxiety around ERT—including concerns about efficacy and long-term outcomes—suggests opportunities for counseling and peer support programs.^11,13 These insights should guide system-level improvements for timely diagnosis, transparent communication, and support services that prioritize patient experience alongside clinical outcomes. Overall, findings align with prior reports, emphasizing the need for earlier recognition, coordinated multidisciplinary care, and targeted psychosocial support to reduce disease burden and improve QoL.^9–13

Limitations

This study is limited by its small sample size (n = 20) and restriction to 2 English-speaking countries with distinct healthcare systems, reducing generalizability. Experiences in other regions or demographic groups may differ. Some survey items were subjective, relying on participants’ perceptions of healthcare interactions and HCP knowledge. Additionally, 60% of respondents reported involvement in patient advocacy, which may bias responses toward individuals with greater disease awareness and engagement in care. Despite constraints, findings are consistent with prior literature and underscore persistent challenges, including diagnostic delay, disease burden, and variable effectiveness of current therapies to improve QoL.

Conclusion

Despite treatment advances, adults with LOPD continue to face diagnostic delays and care gaps. Efforts to enhance HCP education, streamline referral pathways, and provide integrated support services are needed to improve patient outcomes.

Supplemental Material

sj-docx-1-jpx-10.1177_23743735261433788 - Supplemental material for Patient Perspectives on Late-Onset Pompe Disease: Insights From a 2025 Patient Snapshot Survey on Diagnosis, Treatment, and Quality of Life

Supplemental material, sj-docx-1-jpx-10.1177_23743735261433788 for Patient Perspectives on Late-Onset Pompe Disease: Insights From a 2025 Patient Snapshot Survey on Diagnosis, Treatment, and Quality of Life by Benjamin W. Gallarda, Ross A. Leslie, Felicia Oyedepo, Claire Almeida, Kevin Ampeh, Guiomar Gonzalez and Benedikt Schoser in Journal of Patient Experience