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Migalastat is recommended as a treatment of Fabry disease – NICE guidance now available

Published: 16 March 2017
Cells
Fabry disease is a rare inherited metabolic disorder

The National Institute for Health and Care Excellence (NICE) has issued guidance to the health service on the use of the drug migalastat, informed by a report produced by SHTAC.

Fabry disease (also known as Anderson-Fabry disease) is a rare inherited metabolic disorder in which the body produces a dysfunctional version of the enzyme alpha-galactosidase A. The level of activity of this enzyme varies depending on the mutation; some mutations lead to reduced enzyme activity, whereas others produce a non-functional enzyme or no enzyme at all. This enzyme, when working correctly, promotes the breakdown of several lipid-like molecules which would otherwise be harmful to cells.  

With low amounts of this enzyme or in its complete absence, these toxic molecules build up in the cells of the body, causing a range of symptoms which can severely impact on daily life. Symptoms may include pain that spreads throughout the body (called a Fabry crisis), gastrointestinal complications, headaches, vertigo and hearing impairment. The disease is progressive and if not controlled, can eventually lead to failure of organs such as the kidneys, heart and nervous system.

Since 2001, the standard care for Fabry disease has been infusions with enzyme replacement therapy (ERT). The UK standard operating procedure recommends that adults with classical Fabry disease start ERT at diagnosis and people with non‑classical Fabry disease start ERT when disease symptoms have an impact on quality of life or if there is evidence of gastrointestinal symptoms, renal disease, cardiac disease or neurovascular disease. However, with a dosing schedule every 2 weeks requiring hospital visits, this can also have an impact on the quality of life and variation in enzyme levels can result in the risk of infusion-related reactions, infections and the possibility of developing antibodies against treatment.

Migalastat (Galafold, Amicus Therapeutics), works by effectively ‘repairing’ the damaged alpha-galactosidase A enzyme so that it is able to function properly in preventing the intracellular build-up of the damaging molecules.

The NICE highly specialised technologies programme has recommended that migalastat, taken orally, may be used as an option for treating Fabry disease in people over 16 years of age who have an amenable mutation.  However, its use should only be considered if ERT would otherwise be offered and if it is provided at the discount price agreed with the drug manufacturer in the patient access scheme. Further details can be found on the NICE website.

For more information on SHTAC’s previous research into metabolic disorders, please visit our Research page.

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