Aligning Fabry-specific treatment access with contemporary evidence: Considerations for the Australian setting

Abstract

Abstract Background: Fabry disease is a rare, progressive, X-linked, lysosomal storage disorder characterized by a wide spectrum of heterogeneously progressive clinical phenotypes. In the absence of a cure, disease-specific therapy aims to improve symptoms, stabilize current disease and delay progression. In Australia access to available treatments requires patients to meet pre-specified criteria, which were established more than 15 years ago. To address this, a panel comprising two members of the patient association Fabry Australia and its Medical Advisory Committee conducted a review of the literature to help inform contemporary disease-specific treatment access for patients with Fabry disease in Australia. The findings from the literature were applied to develop consideration statements and recommendations for revised classification and treatment initiation criteria.Results: Access criteria for Fabry-specific treatment in Australia are not aligned with current clinical evidence. The current treatment access paradigm in Australia imposes disease-severity related restrictions on all patients. This prevents timely treatment initiation and compromises clinical outcomes. Recommendations include the definition of patient classification groups to accommodate classical and non-classical disease and a revised decision framework to establish treatment initiation criteria with more sensitivity to the different disease trajectories within these patient groups. Conclusions: It is hoped that the proposed consideration statements and recommendations will raise awareness of a wider range of clinical scenarios that could be considered to prompt the initiation of Fabry-specific disease therapy in Australia. Adoption of these recommendations could support more equitable and timely access to treatment and better align Australian practice with contemporary evidence and international guidelines.