Multi-country rare disease patient research: EPP L.I.G.H.T. study

Multi-country disease burden research to understand patient experiences with Erythropoietic Protoporphyria

To guide both development and reimbursement strategy decisions, a healthcare research sponsor needed to understand the real-world burden of Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP) across European populations. With limited published data on patient experiences, they required comprehensive disease burden evidence.

Sciensus designed and executed a multi-country patient-reported outcomes study across the UK, France, Germany, Italy and Spain, successfully enrolling approximately 100 patients to gather critical quality of life and healthcare utilisation data.

The Sciensus solution

Study design and protocol development

Sciensus designed a comprehensive online survey combining validated and disease-specific patient-reported outcome measures, assessing health-related quality of life, clinical impact (symptoms, pain, mental health, productivity loss), healthcare utilisation and patient preferences. Examples of measurements leveraged include EPP Impact Questionnaire (EPIQ), Patient-Reported Outcomes Measurement Information System (PROMIS) and KIDSCREEN-27.

The protocol was adapted for regulatory compliance in each country, with Sciensus managing all ethics submissions, regulatory notifications and compliance documentation.

Patient recruitment and engagement

Sciensus leveraged established relationships with patient advocacy groups across Germany, France, Italy, the UK and Spain to recruit participants through a multi-stage process, inclusive of multilingual materials, clinical nurse screening and verification and ongoing nurse support to address questions throughout the process.

This approach ensured culturally appropriate engagement while maintaining rigorous eligibility verification.

Data collection and management

Participants completed the multilingual survey at their own pace over approximately 60 minutes, with save-and-return functionality. Each participant received an £80/€95 shopping voucher upon completion, administered immediately through the platform.

Complete study management

Sciensus delivered end-to-end study management: protocol adaptation, ethics submissions across five countries, questionnaire licensing and translation, clinical nurse recruitment and training, patient advocacy coordination, data monitoring and participant compensation administration.