Sciensus and Disc Medicine test rare disease survey model across five European countries

By AI, Created 2:00 PM UTC, May 19, 2026, /AGP/ – Sciensus and Disc Medicine presented data at ISPOR 2026 showing a centralized survey framework can gather high-quality patient insights across multiple countries in rare disease research. The five-country study in EPP/XLP enrolled 101 participants and finished in under eight months with full questionnaire completion.

Why it matters: - Rare disease studies often struggle with small patient populations, uneven local requirements and high costs. - A scalable survey framework could make it easier to generate evidence for health technology assessment, reimbursement, market access and patient-centered decisions. - The approach may help researchers collect stronger data in conditions where evidence is fragmented or limited.

What happened: - Sciensus and Disc Medicine presented data at ISPOR 2026 in Philadelphia, where the work was included in the inaugural Rare Disease Poster Tour. - The poster, PT17, was titled “An Effective Methodological Framework for Executing Multinational, Patient-Centred Cross-Sectional Surveys in Rare Diseases.” - The study tested the framework in erythropoietic protoporphyria and X-linked protoporphyria, or EPP/XLP. - The survey ran across the UK, France, Germany, Italy and Spain.

The details: - The framework used a single central infrastructure with defined local adaptations. - The study recruited 101 participants, including 90 adults and 11 adolescents. - Participants had a mean age of 43 years. - All participants completed the questionnaire, producing a 100% completion rate. - The project ran from start to study close in under eight months. - The survey blended validated patient-reported outcome measures with new questions on symptoms, health-related quality of life, health care use and treatment preferences. - The master protocol was adapted into national versions for each country. - The team mapped ethics and regulatory requirements by country. - The study used multilingual electronic data capture with embedded validation rules and proactive data quality checks. - EPP/XLP are rare genetic diseases of the heme synthesis pathway and are often linked to severe phototoxic pain, reduced health-related quality of life and higher liver disease risk.

Between the lines: - The results suggest rare disease research does not have to rely on separate country-by-country studies to produce usable patient data. - A common framework with local tailoring can reduce operational friction while preserving local compliance. - The design reflects a broader push to place patient perspective closer to the center of evidence generation. - Disc Medicine and Sciensus are positioning the methodology as reusable across other rare conditions, not just EPP/XLP.

What’s next: - The methodology is intended to support future rare disease studies that need multinational execution with local regulatory alignment. - Life sciences companies may use the framework as a model for patient insight work tied to access and reimbursement decisions. - Sciensus and Disc Medicine did not announce further trial or study milestones in the release.

The bottom line: - The five-country EPP/XLP study shows a centralized, locally adaptable survey model can deliver complete patient data quickly in rare disease research.