Living with Pompe disease: what do patients report?
30 march 2026
What does Pompe disease really mean for patients’ daily lives? The 2024 Pompe Survey Report provides a unique perspective.
The 2024 Pompe Survey report is the first annual report to present these findings in a publicly accessible format. It brings together the problems, symptoms, quality of life, and treatment that patients reported in 2024.
For example, this year, 81% of participants reported experiencing muscle cramps, and 76% reported mobility problems. Treatment patterns are gradually shifting from first-generation enzyme replacement therapy (ERT) to newer therapies: 50% of participants received alglucosidase alfa, while 41% received newer ERTs avalglucosidase alfa or cipaglucosidase alfa with miglustat.
The report also shows what we have already learned from the survey since it was established. Previous findings have shown, for example, that enzyme replacement therapy can improve aspects such as quality of life and reduce the risk of wheelchair dependency. Results from the survey have contributed to a better understanding of the disease and have informed reimbursement decisions.
About the survey
The IPA/Erasmus MC Pompe Survey is a long-running international study that collects information directly from patients about how Pompe disease affects their daily lives. Established in 2002, it provides a unique, independent source of long-term data on the lived experience of people with late-onset Pompe disease. By following patients over time, it offers insight into disease progression and the impact of treatments on everyday functioning.
With new therapies becoming available, it is important to continue monitoring their impact on patients’ lives. We therefore invite all patients to participate in the survey and contribute to improving care for people living with Pompe disease.
Read the full Pompe Survey Report via the link below.
More information about the Pompe Survey? Click on this link.
