PATIENT-CENTRIC PATHWAYS: SURVEYING TREATMENT ACCESS AND SUPPORT FOR RARE DISEASES, INCLUDING RARE CANCERS, IN EUROPE
Author(s)
Raymond Huml, MS, DVM, RAC1, Mathieu Loiseau, MSc, RN1, Noolie Gregory, BSc1, Katie Duncalf, MSc1, Habiba Mossallem, MSc1, Sherif Raouf, MD1, Warren Hart, MSc1, Pam Cusick, MA2, Jennifer Harscheid, BS2.
1Sciensus, London, United Kingdom, 2Rare Patient Voice, Towson, MD, USA.
1Sciensus, London, United Kingdom, 2Rare Patient Voice, Towson, MD, USA.
OBJECTIVES: Globally, access to timely and effective treatment remains a significant challenge for individuals living with rare diseases. Equally challenging is reaching a representative, multinational patient sample with a standardised survey to gather insights that can drive treatment improvements. To address these issues, Rare Patient Voice and Sciensus conducted a comprehensive survey in December 2025 across the United Kingdom, Germany, France, Italy, and Spain, capturing real-world treatment experiences from patients and caregivers. The findings will provide pharma companies with insights to support more efficient clinical trial execution and improved patient support.
METHODS: The survey included 20 patient questions and 3 caregiver questions, covering demographics, medication access, and treatment experience and burden. Recruitment leveraged Rare Patient Voice’s extensive European network, enabling faster and more compliant fieldwork than standard approaches.
RESULTS: Preliminary findings from a subset of countries show that obtaining medication itself represents a substantial burden. Approximately 75% of respondents collect medication from a community pharmacy or hospital, while 25% have or are arranging home delivery. Over half report the financial burden of their collection arrangement is moderate or significant, and more than 20% state that it negatively affects their well-being. The final report will describe barriers to access, burdens associated with rare disease management, the impact of home delivery, and participation in clinical trials and expanded access programs, informing recommendations to strengthen patient services for improved outcomes. The next phase will link survey findings with anonymised data from more than 300,000 patients supported by Sciensus to explore specific adherence and outcome improvements associated with enhanced services.
CONCLUSIONS: Integrating patient and caregiver perspectives, this research highlights critical unmet needs in access and support and offers actionable recommendations for enhancing treatment pathways. These insights will inform Rare Disease Day 2026 activities and initiatives to improve care for people living with rare diseases.
METHODS: The survey included 20 patient questions and 3 caregiver questions, covering demographics, medication access, and treatment experience and burden. Recruitment leveraged Rare Patient Voice’s extensive European network, enabling faster and more compliant fieldwork than standard approaches.
RESULTS: Preliminary findings from a subset of countries show that obtaining medication itself represents a substantial burden. Approximately 75% of respondents collect medication from a community pharmacy or hospital, while 25% have or are arranging home delivery. Over half report the financial burden of their collection arrangement is moderate or significant, and more than 20% state that it negatively affects their well-being. The final report will describe barriers to access, burdens associated with rare disease management, the impact of home delivery, and participation in clinical trials and expanded access programs, informing recommendations to strengthen patient services for improved outcomes. The next phase will link survey findings with anonymised data from more than 300,000 patients supported by Sciensus to explore specific adherence and outcome improvements associated with enhanced services.
CONCLUSIONS: Integrating patient and caregiver perspectives, this research highlights critical unmet needs in access and support and offers actionable recommendations for enhancing treatment pathways. These insights will inform Rare Disease Day 2026 activities and initiatives to improve care for people living with rare diseases.
Conference/Value in Health Info
2026-05, ISPOR 2026, Philadelphia, PA, USA
Value in Health, Volume 29, Issue S6
Code
PCR191
Topic
Patient-Centered Research
Topic Subcategory
Patient Engagement
Disease
SDC: Rare & Orphan Diseases