Fabry disease is a progressive, inherited, multisystemic lysosomal storage disease. It is characterized by sphingolipids’ accumulation due to the inherited deficiency of the enzyme alpha-galactosidase A.
Fabry disease is caused by mutations in the GLA gene, encoding the alpha-galactosidase A enzyme. This gene is located on chromosome X; therefore, males are affected while heterozygous females are carriers but may show a wide range of clinical manifestations.
The clinical picture covers a wide spectrum ranging from mild cases in heterozygous females to severe cases in classically affected hemizygous males with no residual alpha-galactosidase A activity. It is characterized by specific neurological, cutaneous, renal, cardiovascular, cochleovestibular, and cerebrovascular manifestations.
Incidence is reported to be 1 in 80,000 live births, but this figure may underestimate disease prevalence.
How is Fabry disease treated?
Nowadays, enzyme replacement therapy (ERT) is considered the standard treatment for Fabry disease. The recombinant alpha-galactosidase A enzyme is administered with intravenous injections. The earlier the treatment is initiated, the better are the treatment results.
Conventional management consists of pain relief with analgesic drugs, nephroprotection, and other symptomatic treatments. Some patients require dialysis and kidney transplant.
In October 2017, Chiesi announced an Ex-US license and collaboration agreement with Protalix BioTherapeutics, Inc. for the development and commercialization of PRX-102 (pegunigalsidase alfa), the Company’s chemically modified version of the recombinant alpha-Galactosidase-A protein for the treatment of Fabry disease. In July 2018, Protalix and Chiesi entered into an exclusive U.S. license and supply agreement, which grants to Chiesi the United States rights for the development and commercialization of PRX-102.