Fabry-specific treatment in Australia: time to align eligibility criteria with international best practices

Kathleen Nicholls; Charles Denaro; Michel Tchan; Carolyn Ellaway; Drago Bratkovic; Sheridan Campbell; Megan Fookes; Mark Thomas

doi:10.1111/imj.16327

Fabry-specific treatment in Australia: time to align eligibility criteria with international best practices

Intern Med J. 2024 Jan 11. doi: 10.1111/imj.16327. Online ahead of print.

Authors

Kathleen Nicholls^{1

2}, Charles Denaro^{3

4}, Michel Tchan^{5

6}, Carolyn Ellaway^{6

7}, Drago Bratkovic⁸, Sheridan Campbell⁹, Megan Fookes¹⁰, Mark Thomas¹¹

Affiliations

¹ Department of Nephrology, Royal Melbourne Hospital, Melbourne, Victoria, Australia.
² Department of Medicine, The University of Melbourne, Melbourne, Victoria, Australia.
³ Department of Internal Medicine and Aged Care, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
⁴ Academy of Medicine, University of Queensland, Brisbane, Queensland, Australia.
⁵ Department of Genetic Medicine, Westmead Hospital, Sydney, New South Wales, Australia.
⁶ Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
⁷ Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
⁸ Department of Internal Medicine and Aged Care, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
⁹ Fabry Australia, Echuca, Victoria, Australia.
¹⁰ Fabry Australia, Sydney, New South Wales, Australia.
¹¹ Department of Nephrology, Royal Perth Hospital, Perth, Western Australia, Australia.

PMID: 38212950
DOI: 10.1111/imj.16327

Abstract

Background: Disease-specific therapy aims to improve symptoms, stabilise current disease and delay progression in patients with Fabry disease. In Australia, treatment access is subject to eligibility criteria initially established in 2004. Patients and their clinicians question why these criteria have remained unchanged despite significant progress in disease understanding.

Aims: Appraise the clinical quality of the Australian treatment access criteria.

Methods: The Fabry Australia Medical Advisory Committee (N = 6) used the Appraisal of Guidelines for REsearch and Evaluation Global Rating Scale (AGREE II GRS) to assess the clinical quality of the current treatment eligibility criteria. They reviewed the literature, developed 17 clinical statements to help guide reforms of the eligibility criteria and achieved consensus (achievement of ≥75% agreement in the range 5-7 on a 7-point Likert scale) through anonymous voting. The findings were applied to develop proposals for revised classification and treatment initiation criteria.

Results: The current treatment eligibility criteria underperformed on the AGREE II GRS. They are pragmatic but out-of-step with contemporary data. Consensus was achieved on all 17 proposed clinical statements. There was strong agreement to differentiate classical male Fabry patients to facilitate timelier access to Fabry-specific treatment. There was also agreement on the value of adopting relevant organ involvement criteria in classical female patients and patients with non-classical disease.

Conclusions: Australian access criteria are misaligned with current clinical evidence. The clinical statements and proposed classification and initiation criteria should prompt discussions to support more equitable access to treatment and better align Australian practice with contemporary evidence and international guidelines.

Keywords: Fabry disease; access; classification; enzyme replacement therapy; healthcare quality; migalastat.

Abstract

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