One common challenge that all potential future therapies will face is how to best design trials in an ultra-raredisease with a heterogenous late-onset population. On behalf of the international Pompe community, the IPA would like to take this opportunity to advocate for an increased value to be placed on Patient Reported Outcomes in clinicaltrial design, as well as in regulatoryreview of future treatment option.

Due to the rare nature of Pompe, which leads to the necessity of small trial sizes and the heterogenous nature of Pompe disease, patients in trials are likely to be at different stage in the development of their disease. Furthermore, just as there is a great degree of heterogeneity in Pompe disease progression for patients, over the last twenty years we have seen that there is also a large degree of heterogeneity in patient response to treatment. Therefore, we believe the broadest range of evaluation is necessary to ensure that all the benefits of treatment are seen. And with a progressive disease like Pompe, we must not forget that stabilization of symptoms is a benefit for patients.

Read the full IPA Position Paper on Patient Reported Outcomes (PDF, 925 kB)