Presentation (CTI)

OBJECTIVES: Rare diseases (RDs) and orphan drugs (ODs) pose critical healthcare challenges in Saudi Arabia. This study explores challenges related to RD and OD accessibility and proposes strategic, actionable recommendations to inform national RD and OD policies in the country.
METHODS: A one-day policy-focused multi-stakeholder workshop was convened in Riyadh, Saudi Arabia, in collaboration with the Saudi Health Council. Participants included official representatives from public, semi-governmental, and private sectors; policy-makers, regulators; providers; healthcare professionals (HCPs); payers; academia; patient advocacy groups; pharmaceutical industry; and insurance companies. Through presentations and plenary discussions, stakeholders explored barriers to accessing ODs and recommended strategies to improve RD care and OD accessibility. Thematic analysis was applied to list barriers and generate policy recommendations.
RESULTS: Fifty-nine stakeholders participated in the workshop. Key findings revealed lack of a national RD/OD strategy, lack of locally RD/OD definitions that fit with the Saudi context, limited RD awareness among HCPs, diagnostic delays, issues in access to RD therapies, limited number of diagnostic centers, insufficient screening and prevention programs, regulatory hurdles in OD approval and importation, and financial constraints.
CONCLUSIONS: The workshop identified key priorities for improving Saudi Arabia's RD/OD ecosystem, emphasizing targeted medical education, accelerated regulatory/breakthrough pathways, formal involvement of patient representatives, unified evaluation and reimbursement processes and systems, and alignment with international best practices. Ensuring equitable ODs access and enhancing RDs management requires a comprehensive, multi-sectoral and multi-faceted approach involving evidence-based policies, research investment, streamlined regulations, and stronger patient advocacy.