The long-running international Pompe Survey by IPA and Erasmus MC, Rotterdam, continues to expand its reach and impact. Established in 2002, the survey is unique in the Pompe community: it is independent and not initiated by a pharmaceutical company, making it one of the few long-term, neutral data sources on the lived experience of people with Pompe disease.
Participation increased again. 2024 there were 179 participants, 2025, 202 participants filled in the questionnaire. The survey continues to be strongly represented internationally
In 2025, the largest groups of respondents came from the Netherlands (74), the United States (24), the United Kingdom (17), Spain (17), Germany/Austria/Switzerland (16), and Australia (15). Participation also increased in several countries, particularly Spain and Canada.
The consent and re-consent process has recently been significantly streamlined through the introduction of digital consent using ValidSign, making participation faster and easier for patients. The survey is continuing to broaden its international reach. New participants from South Africa are expected to join the study soon, further strengthening its global perspective on living with Pompe disease.
Over the past year, several key project milestones have been reached: The organizational structure of the survey has been formalized, including a survey board and external advisors. The survey rollout in Italy and Spain has been completed. Electronic informed consent (e-consent) has been implemented and approved by the Medical Ethics Committee.
Next steps include expanding the survey into additional languages, exploring new options for securely sharing individual results, and strengthening the survey’s visibility. After more than two decades of continuous data collection, the Pompe Survey remains a vital resource for understanding how Pompe disease affects patients over time. Its independent, patient-focused design continues to provide valuable real-world insights that support research, clinical understanding, and advocacy across the global Pompe community.