Handok launched Galafold® (migalastat, 123 mg), the first-ever oral medication in the world for Fabry disease, in Korea on July 1. This is a welcome introduction into a market where Fabry disease has been treated so far with injections only.

Galafold® specifically targets teenagers and adults over the age of 16 with amenable mutations. Patients are to take one capsule every two days at the same hour. Developed by Amicus Therapeutics, an American company, the drug won FDA approval in October 2018, and is currently marketed in the United States, the European Union, Australia, Canada, Switzerland, Israel, and Japan. Designated by the Korean government as an “urgent” medication in the developmental phase for rare disease treatment, the drug obtained Ministry of Food and Drug Safety approval in late 2017. As of March 1, 2019, it is also covered by the National Health Insurance’s drug scheme.

Fabry disease is a rare condition that disables an enzyme known as alpha-galactosidase A. The current estimate is that there are approximately 150 people diagnosed with the disease in Korea today. The alpha-galactosidase A deficiency leads to rapid accumulation of glycolipids that compromise the functions of a variety of other cells in the body, increasing the risk of fatal complications affecting the brain, heart, and kidneys. Failure to receive timely treatment can lead to cardiovascular disease, stroke, renal failure, and even premature death.

One major advantage of Galafold® is that patients can easily administer the drug to themselves, unlike the existing enzyme replacement therapy (ERT), which involves intravenous injections of enzymes developed through DNA recombination (genetic engineering). Galafold® combines with alpha-galactosidase A in patients with amenable mutations to reactivate the enzyme and break down the accumulated glycolipids.

The efficacy and safety of Galafold® have been proven through numerous clinical trials. Phase-3 FACETs trials tracing and analyzing 67 people with Fabry disease over a six-month period confirmed that those who had been taking Galafold® had significantly less buildup of glycolipids in the capillary vessels in their kidneys. A long-term tracing study on 11 people with Fabry disease with left ventricular hypertrophy in the heart and with amenable mutations found that the left ventricular mass index (LVMI) scores had decreased by an average of 33.1 g/m² in four patients by Month 48.

Phase-3 ATTRACT trials on 57 people with Fabry disease who had been on ERT for at least 12 months and switched to Galafold® for the trials also confirmed that the estimated glomerular filtration rates (eGFR), an indicator of renal function, changed by -0.40 mL/min/1.73 m² on average over the 18-month trial period, statistically equal to patients who remained on the ERT. The ATTRACT study further affirmed that the LVMI scores decreased by 2.0 g/m² over the same period in patients on ERT, and significantly further by 6.6 g/m³ in those who switched to Galafold®.