OBJECTIVES: To assess perceptions of rare disease (RD) patients and their caregivers regarding access to RD information and interactions with their healthcare providers (HCPs).

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 information about interactions with their HCPs.

RESULTS: Survey participants included 100 from Germany, 168 from Spain, 252 from the UK and 280 from the U.S; over 300 unique RDs were represented within the study cohort. Majority (71%) of participants reported having difficulties attaining information regarding their RD or new treatment options under development for their condition; 46% reported that their medical team is never/rarely educated about their RD. Only 14% of respondents reported ‘often/always’ receiving education about their RD from their medical team and only 28% reported that the information received is ‘often/always’ easy to understand; 70% reported they ‘often/always’ had to educate others (including their medical team) related to their RD. Furthermore, only 29% reported “often/always” that their needs were heard by their medical team. The results varied across the countries.

CONCLUSIONS: Majority of the RD patients and caregivers reported difficulties attaining information regarding their RD or new treatment options, and reported rarely receiving RD information from their medical team and that the received information was not easy to understand. Better strategies to improve knowledge and awareness of RD among HCPs, and better communication of RD information to patients/caregivers is warranted.