OBJECTIVES: The Pharmaceutical Benefits Advisory Committee (PBAC) plays a crucial role in evaluating the clinical and cost-effectiveness of medications for reimbursement in Australia. However, the process for rare diseases can pose unique challenges. The objective of this study was to identify and analyse the reasons for negative PBAC reviews in rare diseases, focusing on the objectives, methods, results, and conclusions of the assessment process.

METHODS: This study involved a comprehensive review and analysis of publicly available PBAC meeting outcomes, guidelines, and relevant literature on orphan drug evaluations published between 2021 and 2023. The identified evaluations were examined to identify common reasons for negative reimbursement decisions by PBAC.

RESULTS: The review identified 22 negative PBAC recommendations across 20 different orphan medications by PBAC between 2021 and 2023. The most frequent factors contributing to a negative outcome were high treatment costs (77%), uncertainties in estimating long-term clinical effectiveness (50%), limited clinical evidence (36%), and issues with economic modelling (32%). Additionally, the proposed positioning of treatments, variations in disease prevalence and heterogeneity, as well as limited patient populations and associated difficulties in conducting clinical trials contributed to negative outcomes.

CONCLUSIONS: This study highlights the primary reasons for negative PBAC reviews for orphan medications, shedding light on the challenges faced in assessing the clinical and cost-effectiveness of treatments for rare diseases. It is essential to explore alternative evaluation methodologies that can help mitigate the unique challenges of obtaining reimbursement for treatments for rare diseases in Australia, such as adaptive pathways, real-world evidence, and patient-reported outcomes. Collaborative efforts among stakeholders, including pharmaceutical companies, patient advocacy groups, and regulatory bodies, are necessary to overcome these challenges and ensure timely access to effective treatments for patients with rare diseases.