LOPD patients face long delays in diagnosis, gaps in healthcare: Survey
Respondents also cited insufficient pain management, psychological support
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Misdiagnosis and lengthy diagnostic delays define the experience of many adults living with late-onset Pompe disease (LOPD), a new survey finds.
Even after they finally receive a diagnosis, patients continue to face widespread gaps in healthcare provider awareness and communication, alongside insufficient pain management and psychological support.
“These exploratory findings highlight persistent gaps in diagnosis and care, emphasizing the need for improved [healthcare provider] education and integrated support services,” the authors wrote.
The study, “Patient Perspectives on Late-Onset Pompe Disease: Insights From a 2025 Patient Snapshot Survey on Diagnosis, Treatment, and Quality of Life,” was published in the Journal of Patient Experience.
Misdiagnosis common in LOPD patients
LOPD usually emerges after 1 year of age through to adulthood, and is marked by symptoms that include slowly progressive breathing problems, muscle weakness, and pain.
One of the most significant challenges in LOPD is reaching the correct diagnosis. Because its symptoms can overlap with other neuromuscular conditions, misdiagnosis is common, often leading to years of delay before LOPD is identified. This can worsen outcomes and reduce quality of life, since earlier intervention is generally associated with better outcomes.
Enzyme replacement therapy (ERT) is the primary treatment for LOPD and has been shown to help stabilize or improve muscle strength and lung function. However, the extent to which ERT improves overall quality of life varies among patients, underscoring the need to minimize delays in both diagnosis and treatment initiation.
This study sought to gather data directly from LOPD patients about their experiences — including how long it took to receive a diagnosis, how satisfied they are with their current treatment and care, and what needs remain unaddressed.
To that end, researchers conducted an online survey of 20 adults (10 women and 10 men), ages 31 to 71, with self-reported LOPD. Half of the group resides in the U.K. and the other half in the U.S.
On average, the delay to diagnosis exceeded 9 years
According to the results, LOPD had a significant impact on daily life for all respondents. More than half (55%) reported a moderate impact on their daily lives, with the remaining 45% reporting a severe impact. Moderate-to-severe breathing difficulties were reported by nearly all patients (95%). Moderate-to-severe pain was also common (65%).
Notably, the length of time it took participants to receive a diagnosis was substantial. On average, the delay from first symptoms to diagnosis exceeded nine years, with a median of eight years. Nearly 25% of respondents waited 10 to 20 years, and 15% waited more than 20 years. These delays were similar across age groups.
One participant said they experienced an “11-year diagnosis journey full of misdiagnosis,” and wrote about “having to educate every single [general practitioner] that I see about Pompe disease.”
Before receiving their diagnosis, participants had seen an average of 4.6 clinicians, and 75% reported having been misdiagnosed at some point. All respondents noted limited awareness of LOPD among healthcare professionals, many cited difficulties accessing specialists (65%), and some experienced treatment delays (35%).
One participant noted: “Neurologists that should be aware of new treatment options having no idea what they are. Doctors not having any clue what LOPD is.”
Nearly all respondents were on ERT (90%). Of the two participants not using ERT, both were in the lowest income brackets and reported a severe impact on daily life.
Challenges with insurance and treatment access were noted, with one participant stating: “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.”
Uncertainty about the future was a recurring concern
Overall, most respondents were satisfied with their treatment (70%). Other treatments in addition to ERT included painkillers (55%), physical therapy (25%), and combination therapy (15%). Pain management, however, was an unmet need, with 25% rating it as very effective, 55% as somewhat effective, and 20% as ineffective.
Communication with healthcare providers received mixed results. While 40% rated it as very effective and another 40% as somewhat effective, 20% found it mostly or completely ineffective. Confidence in whether their providers truly understood LOPD also varied: 30% felt confident in their providers’ understanding, 20% felt the providers understood less than half the time, and 5% felt their providers had no understanding of the disease at all.
Uncertainty about the future was also a recurring concern, with one participant sharing: “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 rated as very adequate by 1 in 5 (20%) respondents, while most found it somewhat adequate (40%) or unsatisfactory/unacceptable (40%).
Despite treatment advances, adults with LOPD continue to face diagnostic delays and care gaps. Efforts to enhance [healthcare provider] education, streamline referral pathways, and provide integrated support services are needed to improve patient outcomes.
To learn about their condition, respondents turned most often to healthcare specialists (75%), online search engines (70%), medical websites (70%), and social media (65%). While half (50%) found it easy to explain LOPD to others, some (40%) found it somewhat easy, and 1 in 10 (10%) found it difficult.
Most respondents (75%) expressed a desire to learn more about their condition, and many indicated a specific interest in research and clinical trials. One participant stated: “I would like to be more informed on future trials and how to access them.”
“Despite treatment advances, adults with LOPD continue to face diagnostic delays and care gaps,” the researchers concluded. “Efforts to enhance [healthcare provider] education, streamline referral pathways, and provide integrated support services are needed to improve patient outcomes.”
