Improving evidence generation in rare diseases
Sciensus and Disc Medicine are showing how a smarter approach to research can improve evidence generation in rare diseases.
At ISPOR 2026 in Philadelphia, the two organisations shared data from a multinational study in erythropoietic protoporphyria and X-linked protoporphyria (EPP/XLP), two rare genetic diseases that can have a major impact on patients’ daily lives. For rare conditions like these, gathering meaningful patient insight is often difficult because populations are small, dispersed across countries and subject to different local research requirements.
To address this challenge, Sciensus and Disc Medicine developed a centralised yet locally adaptable survey framework designed to deliver high-quality, patient-centred insights across multiple European markets. Using one core infrastructure with defined local adaptations, the study was deployed across the UK, France, Germany, Italy and Spain.
The results show the strength of this model in practice. The study recruited 101 participants, including 90 adults and 11 adolescents, and achieved a 100% questionnaire completion rate. From project start to study close, the full programme was completed in under eight months.
This matters because rare disease research often depends on fragmented evidence and time-intensive country-by-country approaches. By creating a single framework that can be adapted locally, Sciensus helped demonstrate a more efficient way to generate robust data while still reflecting the patient experience.
The survey combined validated patient-reported outcome measures with tailored questions on symptoms, health-related quality of life, healthcare utilisation and treatment preferences. This provided a more holistic view of the burden of disease and the realities of patient care, while producing evidence that can support health technology assessment, reimbursement and market access discussions.
Just as importantly, the methodology is designed to be scalable beyond EPP/XLP. The same model could be applied across other rare and ultra-rare diseases where traditional evidence generation is difficult, costly or slow. For life sciences organisations, that opens the door to faster, more consistent and more patient-centred insight generation across geographies.
The collaboration, featured at ISPOR’s inaugural Rare Disease Poster Tour, highlights the growing importance of methodologies that are both scientifically rigorous and operationally practical. As the need for real-world, patient-centred evidence continues to grow, this work demonstrates how Sciensus can help partners generate meaningful insights in even the most complex research settings.
