Fabry disease is a rare, inherited X-linked lysosomal storage disease characterized by a wide spectrum of heterogeneously progressive clinical phenotypes, and which results in progressive kidney disease, cardiomyopathy, cerebrovascular disease, and reduced life expectancy. Disease-specific therapy aims to improve symptoms, stabilize current disease and delay progression. In Australia treatment access requires that patients meet pre-specified criteria, which have been in place for more than 15 years. Patient questions prompted the patient organization, Fabry Australia, to investigate why these criteria had remained unchanged despite significant progress in the understanding and management of Fabry disease.

A panel comprising two members of Fabry Australia and its Medical Advisory Committee conducted a review of the literature. The aim of this was to inform the clinical quality of the Australian treatment access criteria with reference to international guidelines and contemporary data. The findings from the literature were applied to develop consensus recommendations for classification and Fabry-specific treatment initiation criteria in diagnosed patients.

Evidence supports earlier treatment with reduced barriers to access in some circumstances. Australian access criteria are misaligned with this. They do not distinguish between classical and non-classical Fabry phenotypes, neglect the impact of quality of life and gastrointestinal symptoms, and impose symptom-severity related criteria, which may lead to unnecessary treatment initiation delay. An updated framework is presented. It differentiates phenotypes, facilitates more timely access to Fabry-specific treatment for classical males, and supports relevant organ involvement criteria in classical females and patients with non-classical disease.

A well-performing health technology assessment system facilitates patient access to cost-effective treatments that improve health outcomes. Timely treatment initiation is important to avoid irreversible organ damage in Fabry patients. Patients’ questions about out-dated access criteria has prompted research and uncovered barriers that are no longer clinically valid. The perspectives of the patient as a stakeholder in their disease management should not be overlooked when assessing the value of health technologies in the rare disease setting.