Rare Daily Staff

The European Commission has approved Amicus Therapeutics’ Galafold for the long term treatment of adolescents with Fabry disease aged 12 years and older who have an amenable mutation.

Galafold is already approved in multiple geographies around the world, including the United States, European Union, and Japan, for adults who have an amenable variant, or mutation.

“This approval of Galafold is a transformative moment for the Fabry community in the EU, as it gives those patients as young as 12 years of age with an amenable mutation a new treatment option for the first time in more than 15 years,” said Bradley Campbell, president and chief operating officer of Amicus Therapeutics.

Fabry disease is an inherited lysosomal disorder caused by deficiency of an enzyme called alpha-galactosidase A (alpha-Gal A), which is the result of mutations in the GLA gene. The primary biological function of alpha-Gal A is to degrade specific lipids in lysosomes, including globotriaosylceramide (GL-3). Lipids that can be degraded by the action of alpha-Gal A are called “substrates” of the enzyme. Reduced or absent levels of alpha-Gal A activity lead to the accumulation of GL-3 in the affected tissues, including the central nervous system, heart, kidneys, and skin. Progressive accumulation of GL-3 is believed to lead to the morbidity and mortality of Fabry disease, including pain, kidney failure, heart disease, and stroke. The symptoms can be severe, differ from patient to patient, and begin at an early age. All Fabry disease is progressive and may lead to irreversible organ damage regardless of the time of symptom onset.

Galafold (migalastat) works by stabilizing the body’s own dysfunctional enzyme so that it can clear the accumulation of disease substrate. Globally, Amicus Therapeutics estimates that approximately 35 to 50 percent of Fabry patients may have amenable GLA variants, though amenability rates within this range vary by geography.

The extension of the indication was supported by 1-month interim safety and pharmacokinetics data from Study AT1001-020 which was a 2-stage, open-label, multicenter study to evaluate the safety, pharmacokinetics, pharmacodynamics, and efficacy of migalastat treatment in pediatric subjects aged 12 up to 18 years and weighing less than or equal to 45 kg with Fabry disease and with amenable mutations to the gene encoding α-galactosidase A (GLA).

“This expanded approval is a significant step forward for the Fabry community, as we work towards increasing awareness of this rare disease in young people. It ensures patients, both pediatric and adult now have a convenient oral disease modifying therapy option available,” said Uma Ramaswami, Lysosomal Storage Disease Unit, Royal Free London NHS Foundation Trust.

Amicus will work closely with all relevant government authorities to secure access for eligible patients as quickly as possible. Galafold is not approved for adolescents outside of Europe.

Photo: Bradley Campbell, president and chief operating officer of Amicus Therapeutics

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