Cost regulators for the NHS in England and Wales are backing use of a new therapy to treat the rare genetic disorder Fabry disease with a price tag of £210,000 per patient per year (excluding VAT and any discounts).

The National Institute for Health and Care Excellence has published draft Highly Specialised Technologies guidance recommending Amicus Therapeutics' Galafold (migalastat), but only when it is provided with the confidential discount agreed in the patient access scheme.

Fabry disease is caused by a faulty enzyme responsible for breaking down fatty substances in the body's cells, which leads to accumulation of fats in blood vessel walls throughout the body, particularly those in the skin, kidneys, heart, brain and nervous system.

Patients can eventually develop complications including irreversible organ damage, progressive kidney and heart disease and increased risk of stroke at a relatively young age. Adults may need dialysis, a kidney transplant or pacemakers and may be physically and mentally disabled.

Galafold is an oral, small molecule drug designed to bind to the alpha-galactosidase A (alpha-gal A) enzyme as it is made, helping it to fold correctly and improving its function.

The independent evaluation committee concluded that although the clinical effectiveness evidence for Galafold was highly uncertain, the drug provides similar benefits to the current standard of care - enzyme replacement therapy - at a lower cost.

But it was also noted that the drug provides additional health benefits compared with ERT because, while both are life-time therapies, it is taken orally opposed to an infusion every two weeks.

According to Amicus, 855 people in England have Fabry disease, of whom around 140 would be suitable for treatment with Galafold.