Presentation (CTI)

OBJECTIVES: Delays between marketing authorisation (MA) and reimbursement are a major barrier to timely patient access in rare disease. Access to innovative therapies is challenging due to 1) HTA frameworks shaped by conventional medicines in non-rare disease settings, 2) comparator selection from lack of established standard care, and 3) variable willingness-to-pay thresholds. This study examines historical reimbursement timelines to estimate the impact of delayed access to orphan medicines on patient trajectories and outcomes, using a first-in-class complement inhibitor as an analogue.
METHODS: Ten countries with publicly funded reimbursement systems across Europe, North America, and Asia‑Pacific were included. Access delay was defined as time of MA to national funded access, ranging from 1 to 14 years. An established HTA model for eculizumab (Soliris) in paroxysmal nocturnal haemoglobinuria informed by published data compared immediate (<1 year), delayed (≥1 year), and no access scenarios. Outcomes were measured as life‑years (LYs) and quality‑adjusted life‑years (QALYs) over a lifetime horizon.
RESULTS: Delayed access led to substantially reduced survival compared with Japan, Germany and UK where access was <1 year post-MA. At the patient level, a 1 year delay in Italy resulted on average in ~3 LYs and ~2 QALYs lost, increasing to ~22 LYs and ~20 QALYs lost with a 14-year delay in the Netherlands. In New Zealand, no access resulted in ~26 LYs and ~26 QALYs lost on average over a patient’s lifetime. Across 7 countries with delayed or no access, this equated to a population loss of ~38,000 LYs and ~35,000 QALYs.
CONCLUSIONS: Delays between MA and reimbursement lead to substantial, avoidable health losses. These findings highlight the burden of delayed access and the need to close the gap between registration and reimbursement of orphan medicines to improve health outcomes for people living with a rare disease.