Rare Disease Patient and Caregiver Perspectives on Opportunities to Try New Rare Disease Treatments or Participate in Rare Disease Research: Results From an International Survey

OBJECTIVES: To understand rare disease (RD) stakeholder perspectives regarding their opportunities to try new RD treatments, or participate in clinical or real-world research related to their RD.

METHODS: Eight hundred participants were recruited for an international survey, leveraging a RD stakeholder panel. All participants had to be a RD patient or a caregiver of RD patient, >=18 years of age and reside in Germany, Spain, the United Kingdom (UK) or the United States (U.S). Participants completed an online survey outlining their (or their family member’s) experience living with RD, including opportunities to participate in research.

RESULTS: Survey participants included 100 from Germany, 168 from Spain, 252 from the UK and 280 from the U.S, with a median age of 44 years; 85% were female; 78% were RD patients, 15% were caregivers of a RD patient, and 7% represented both patient and caregiver. Overall, 85% of RD patients and caregivers (range: 78% (U.S) – 91% (Germany)) report never/rarely being provided opportunity to try new RD treatments. Furthermore, 85% of participants (range: 84% (Spain/Germany) – 86% (UK)) consider that it is quite a bit or very much important for individuals with RD to participate in real-world studies (including disease or product registries). However, 86% of survey participants (range: 78% (U.S) – 95% (Germany)) reported to have rarely or never been given an opportunity by their doctor to participate in a research study related to the RD of interest.

CONCLUSIONS: Across the studied countries, RD patients report seldom being given opportunities to try new treatments or participate in research studies, while they also consider it very important to participate in real-world studies. Doctors and pharmaceutical companies still have ample room to improve on RD patient engagement via research initiatives, which could in turn provide RD patients with opportunities to try new treatments as part of research.