Presentation (CTI)

OBJECTIVES: To develop and validate a methodological framework for multinational, patient-centred cross-sectional surveys in rare diseases—marked by severe symptoms, impaired health-related quality of life (HRQoL), and unmet needs. Additionally, to prioritise generalisability to diverse rare conditions where lack of evidence and understanding of local markets impede reimbursement and commercial viability. This approach challenges traditional siloed methods by filling data gaps through interdisciplinary integration (e.g., epidemiology for sampling, statistics for validation) and advocacy-driven, inclusive patient recruitment.
METHODS: Collaborating with a US biopharmaceutical and an end-to-end pan-European service partner, the framework supported a cross-sectional online survey across five countries (UK, France, Germany, Italy, Spain). Key elements included protocol adaptation to EU laws, local translations via ISPOR-accredited providers, in-country advocacy linkages, nurse-verified participant eligibility (>12 years, confirmed diagnosis, target country residency), secure multilingual survey tools, and anonymised data management per local regulations and GDPR. Recruitment emphasised diversity (age, sex, education, race, geography, diagnosis duration) via advocacy groups' digital channels, while effectively addressing false registrations associated with patient incentives through QC checks and nurse validation. Questionnaires blended validated patient-reported outcomes (e.g., social roles/isolation scales, adolescent well-being measures) with novel items on symptoms (pain, warnings), HRQoL, healthcare resource utilization (HCU; e.g., emergency visits, medications), treatment preferences (oral vs. implant), and daily accommodations.
RESULTS: The framework achieved efficient, ethical implementation, recruiting ~100 diverse participants (90 adults, 10 adolescents) without quotas, fostering high engagement via flexible completion and patient incentives. The outcome addressed typical rare disease barriers like scarcity and data privacy, producing insights on disease burden while proving scalable across conditions through adaptable, cross-disciplinary methods drawn from epidemiology and statistics.
CONCLUSIONS: This collaborative pan-European approach improves evidence generation for rare diseases through inclusive, transferable, and scalable processes. This enhances payer discussions and reimbursement opportunities leading to improved treatment access that could be replicated for others facing similar challenges.