Treatment Options

Enzyme replacement therapy (ERT) and chaperone therapy are available in Australia to eligible patients with Fabry disease through the Life Saving Drugs Program (LSDP). 

The most recent consensus guidelines recommend ERT for all symptomatic patients, both male and female with classical or atypical manifestations, who have a definite diagnosis of Fabry disease. Gender and disease presentation determine the optimal time to start ERT.1,2,5 Chaperone therapy is approved for the treatment of Fabry disease in patients with an amenable mutation. In Australia, patients living with Fabry disease must meet criteria set by the Life Saving Drugs Program to access therapy.3

 

Disease-specific therapy should be used in conjunction with symptomatic treatments and lifestyle approaches in the management of Fabry disease.4,5 Interventions to delay serious complications due to organ damage (e.g. kidney transplantation, cardiac pacemaker insertion) may still be necessary.

Life Saving Drug Program (LSDP)

Life Saving Drug Program (LSDP)

Through the Life Savings Drugs Program (LSDP), the Australian Government provides subsidised access to eligible patients living with Fabry disease. 

References

  1. 1.Hopkin RJ, Jefferies JL, Laney DA, et al. (2015) The management and treatment of children with Fabry disease: A United States-based perspective. Mol Genet Metab.
  2. 2.Eng CM, Germain DP, Banikazemi M, et al. (2006) Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 8(9): 539-548.
  3. 3.Malte Lenders, Franciska Stappers, Eva Brand (2020); In Vitro and In Vivo Amenability to Migalastat in Fabry Disease, Mol Ther Methods Clin Dev. 2020 Dec 11; 19: 24–34.
  1. 4.El-Abassi R, Singhal D, England JD. (2014) Fabry's disease. J Neurol Sci 344(1-2): 5-19.
  2. 5.Biegstraaten M, Arngrimsson R, Barbey F, et al. (2015) Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. Orphanet J Rare Dis 10: 36.