OBJECTIVES: Patients diagnosed with rare disease face shortened life expectancy, chronic disability and a lack of viable treatment options. When effective treatments are available there are financial challenges to achieving access, highlighting the need for government subsidy. In Australia, the desire to fund rare disease therapies in the context of the legislative requirement to evaluate the cost-effectiveness of new therapies has posed significant challenges. As part of sequential reviews of the Australian Life Saving Drugs Programme and PBAC guidelines, an Industry Working Group (IWG) was established to formulate recommendations from the perspective of potential sponsors of rare disease therapies. METHODS: A multi-stage review and development process was conducted:

1. Development of a framework for consideration of amended PBAC guidelines for rare disease therapies.
2. An international review of health technology assessment (HTA) guidelines for rare disease therapies.
3. Development of recommendations to Government for amending the newly revised PBAC guidelines.

RESULTS: Current challenges identified by the IWG include: obtaining appropriate advice and guidance upfront; communicating the burden of disease; reliance on lower levels of evidence; challenges in demonstrating cost‐effectiveness; transparency of decision making. The IWG supported a recommendation to establish a fit‐for‐purpose process for evaluation of rare disease therapies. Through a review of guidelines for rare disease therapies from England, Scotland and Canada – several themes emerged: early engagement via an established pre-submission process; flexible evidence requirements and cost-effectiveness criteria; a clear decision making framework; a formalised stakeholder engagement framework; improved transparency in decision making and funding decisions. Results will inform specific recommendations to government. CONCLUSIONS: There are unique challenges with assessing rare disease therapies for funding as part of a broader HTA process. Experience from Australia shows industry can partner with government and provide innovative solutions for how these challenges might be recognised as part of the evaluation framework.