Background and importance In recent years, there has been a notable increase in awareness about rare diseases (RDs) and interest in research and development of orphan medicines (OMs).

Aim and objectives The aim of this project was to assess knowledge, perception and experiences of the public and healthcare professionals (HCPs) regarding RDs and OMs, such as accessibility of OMs.

Material and methods Two questionnaires were developed and validated. The public questionnaire was shared on social media platforms. The questionnaire for HCPs was distributed to different pharmacies and clinics in all districts of Malta and uploaded online. An anonymous random sample of 50 patients with RDs were recruited to complete the questionnaire via the National Alliance for Rare Diseases Support Malta (NARDSM).

Results A total of 229 people completed the public questionnaire. Respondents were aged 18–77 years and 28 respondents were patients with RDs.

• 5 of 28 patients faced problems when accessing OMs.

• 85 of 229 respondents knew or were related to someone with an RD.

• 143 of 229 respondents were aware of the RDs organisations.

• 223 respondents desired more awareness of RDs.

73 HCPs completed the questionnaire, including 62 pharmacists, 8 general practitioners and 3 community nurses. Respondents’ years of practice varied from 1 to 36 years.

• 39 respondents had encountered a patient with an RD at a point in their career.

• 56 respondents identified the definition for RD as ‘A disease that affects 1 in 2000 patients in the EU’.

• 47 respondents wished to see the ORPHA code system being used in hospitals.

• 23 respondents agreed that these drugs should benefit from the same incentives that OMs do.

Conclusion and relevance The fact that 18% of patients with RDs had problems in accessibility shows there is need to improve the accessibility of OMs. Although awareness of the RD organisations was significant (62%), RD organisations should try to achieve greater awareness. Lack of awareness of RDs perceived by 97% of respondents indicates that HCPs, such as pharmacists, have a role to play to increase awareness. As regards HCPs, a significant suggestion was to include the ORPHA code in hospitals (64%).

References and/or acknowledgements No conflict of interest.