Short abstract:

Patient organisations' framing of the issues at stake in the reimbursement of orphan medicines can work as a catalyst for optimising their use in clinical practice, emphasising publicly funded 'real-world' studies, and de-emphasising reliance on evidence from manufacturer-sponsored clinical trials.

Long abstract:

Despite concerns about rare disease patient organisations' involvement biasing evaluation processes about market access and pricing of orphan medicinal products (OMPs), their involvement can work as a catalyst for optimising the use of OMPs in clinical practice. This paper investigates the reimbursement evaluation processes for eculizumab for the treatment of atypical Haemolytic Uraemic Syndrome in England, Scotland, and the Netherlands. Using the analytical lens of valuation studies, the paper asks: how did patient organisations frame the issues at stake in these processes, how did their framing come to reshape the approach taken in these specific cases, and what are potential implications for future reimbursement evaluation processes? The paper shows how, in the face of highly unfavourable cost-effectiveness and looming non-reimbursement, patient organisations together with clinicians mobilised the potential for dose tapering and treatment withdrawal in patients treated with eculizumab, leading to significant cost reductions, better cost-effectiveness, and greater patient safety and comfort. Analysing the different ways in which patient organisations were able to shape the issues at stake in the evaluation processes in the countries studied, the paper argues these cases can be exemplary in moving away from a heavy reliance on industry evidence submissions in reimbursement decision-making. Similar studies are now emerging in the treatment of patients with Paroxysmal Nocturnal Haemoglobinuria, showing their potential value in reframing reimbursement questions. Finally, the paper reflects on patient organisations' differing abilities and opportunities to shape issues at stake in reimbursement processes, and obstacles to the types of 'real-world' research studied here.