Treatment Options

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

Enzyme replacement therapy addresses the enzyme deficiency in Fabry disease by providing an exogenous source of the deficient α-galactosidase A enzyme. The goal of treatment is to reduce symptoms and prevent late complications.1,2 The greatest potential for benefit is likely to be seen when ERT is initiated early in the disease course before irreversible changes such as glomerular sclerosis and cardiac fibrosis have occurred.3,4

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 In Australia, patients living with Fabry disease must meet criteria set by the Life Saving Drugs Program to access subsidised ERT.

 

Enzyme replacement therapy should be used in conjunction with conventional medical treatments and lifestyle approaches, which continue to play a role in symptom management.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.Banikazemi M, Bultas J, Waldek S, et al. (2007) Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 146(2): 77-86.
  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.