The European Medicines Agency (EMA) has recommended granting a marketing authorisation in the European Union (EU) for migalastat (Galafold) for the treatment of Fabry disease, a rare genetic disorder.

Patients with Fabry disease do not have enough of an enzyme called alpha-galactosidase A. This enzyme normally breaks down a fatty substance called globotriaosylceramide (GL-3). If the enzyme is missing or is defective, GL-3 is not broken down and it builds up in the body’s cells, such as heart and kidney cells. Patients with Fabry disease may have a wide range of signs and symptoms, including severe conditions such as kidney failure, heart problems and increased risk of strokes.

Currently, the standard treatment for this disease is enzyme replacement therapy (ERT), which consists of an intravenous infusion (drip) of a copy of the missing enzyme. Migalastat is the first oral treatment for Fabry disease and may provide a more convenient treatment option for patients. It works in a different way to ERT, acting as a ‘pharmacological chaperone’ which binds to the defective alpha-galactosidase A enzyme, allowing it to be transported to where its action is needed and restore its activity. Galafold is to be used only in patients with specific mutations of the disease which are known to be responsive to the active substance in the medicine, migalastat.

The evaluation of EMA’s Committee for Medicinal Products for Human Use (CHMP) was based on the results of two phase III clinical trials in about 110 patients with Fabry disease who had a genetic mutation which responds to migalastat. It demonstrated its efficacy compared to placebo (a dummy treatment) and to ERT in a long-term comparative study.

In these studies, patients taking migalastat did not generally have troublesome side effects; the most common side effect was headache.

Because Fabry disease is rare, migalastat was designated as an orphan medicine by the Committee for Orphan Medicinal Products (COMP). Orphan designation gives medicine developers access to incentives such as fee reductions for scientific advice, or the possibility to obtain 10 years’ market exclusivity for an authorised orphan-designated medicine. It is a key instrument available in the EU to encourage the development of medicines for patients with rare diseases. The applicant also received scientific advice on quality, non-clinical and clinical aspects of the application.

The opinion adopted by the CHMP at its March 2016 meeting is an intermediary step on Galafold’s path to patient access. The CHMP opinion will now be sent to the European Commission for the adoption of a decision on an EU-wide marketing authorization.