Towards accessibility for Rare Diseases RD(s) therapies from an international to local perspective

Third, multistakeholder semi-structured interviews in NI explored barriers and enablers affecting OD access. Finally, a sequential explanatory mixed-methods study of the Mucopolysaccharidosis type VI (MPS VI) patient journey, using electronic medical records and interviews with MPS VI patients' parents.<br><br>The SLR revealed marked heterogeneity in definitions of RD and OD, with no global consensus. In SA, 96% of workshop participants supported a hybrid qualitative-quantitative RD definition, while the access workshop highlighted the need for registries, regulatory flexibility, and sustainable funding.

In NI, interviews identified diagnostic delays, fragmented procurement, and post-Brexit regulatory complexity, but also pointed to Managed Access Agreements (MAAs) and clinical networks as potential levers. The MPS VI study showed late diagnosis, fragmented referral pathways, and ongoing psychosocial burden despite government-funded enzyme replacement therapy (ERT).<br><br>Overall, equitable OD access requires clearer definitions, tailored national strategies, robust registries, flexible regulation, and sustainable funding.

The findings offer practical recommendations for policymakers, clinicians, and patient advocates in SA and NI.