Rare diseases often lack the research evidence required to fully understand the condition and its treatment. This is because patient groups are small, symptoms and disease progression can vary widely, and clinical trials often include only limited numbers of people.
The IPA/Erasmus MC Pompe Survey, developed together with the International Pompe Association and Erasmus MC, shows how collecting information directly from patients can help fill this evidence gap. Over more than 20 years, the survey has grown from a questionnaire project into an important international source of real-world data. Today, it helps support clinical research, treatment evaluation, reimbursement discussions, and regulatory decision-making.
The survey was launched to address a critical lack of data on late-onset Pompe disease. Early findings, covering the path to diagnosis, disease progression, and quality of life, highlighted the unique value of patient-reported outcomes (PROs). Over time, the dataset expanded internationally, enabling researchers were able to study changes over time.
A landmark publication, “Ten years of the international Pompe survey” (2014), showed that long-term patient-reported data can help describe how Pompe disease changes over time and how treatment affects daily life. Later work, including “Enzyme replacement therapy reduces the risk for wheelchair dependency” (2018), used this dataset to show that enzyme replacement therapy significantly delays loss of mobility, one of the most policy-relevant endpoints in rare disease care.
The survey’s main contribution lies in linking clinical information with patients’ real-life experiences. Studies have shown that PROs often match well with clinical measures. This supports the idea that information reported by patients is reliable and useful for clinical decision-making.
The dataset has also helped researchers develop better ways to measure disease impact and has contributed to studies on the natural course of Pompe disease. This is especially important in rare diseases, where large randomized clinical trials are often difficult or impossible. In rare disease research, such datasets function as “evidence multipliers”: each patient’s contribution can support many different studies over time, increasing the value and impact of the original data.
The IPA/Erasmus MC Pompe Survey reflects an important change in rare disease research: patients are no longer only participants who provide data. They are partners in creating and using that data.
This has three important effects:
The IPA/Erasmus MC Pompe Survey shows that data collected with and from patients is not just “extra” information. In rare disease research, it is a core source of evidence.
The survey has had an impact beyond the project itself. Its data has been used in clinical studies, has helped inform regulatory and reimbursement discussions, and has changed how patients are involved in research and decision-making.
When traditional evidence is limited, as it often is in rare diseases, patient-led data is not optional. It is essential for equitable, evidence-based healthcare.
