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Southampton Health Technology Assessments CentreNews

Treatment of Fabry disease – SHTAC is critically appraising the company’s submission to NICE on new drug migalastat

Published: 25 April 2016
Enzyme alpha-galactosidase A
Fabry disease is a rare inherited disorder

SHTAC is assessing the drug company’s evidence submission to the National Institute for Health and Care Excellence (NICE) on migalastat for adult patients who have Fabry disease.

Fabry disease (also known as Anderson-Fabry disease) is a rare inherited disorder in which the body produces a dysfunctional version of the enzyme alpha-galactosidase A. When working correctly, alpha-galactosidase A promotes the breakdown of several lipid-like molecules which would otherwise be harmful to cells. People with Fabry disease accumulate these toxic molecules in their cells, and this leads to cell damage and, eventually, organ damage, particularly involving the kidneys, heart and nervous system. The cumulative damage caused by this process means that Fabry disease is a progressive and debilitating condition which negatively affects patients’ quality of life and can lead to kidney failure, heart failure or stroke, among other problems. The new drug migalastat repairs the damaged alpha-galactosidase A enzyme so that it is able to function properly in preventing the intracellular build-up of the damaging molecules.

As part of the NICE Highly Specialised Technologies Programme, which assesses treatments for very rare conditions, SHTAC is assessing the evidence submitted by the drug company to NICE for the clinical benefits and the cost impact of migalastat in adult patients with Fabry disease.

It is expected that NICE will issue guidance on the use of migalastat in November 2016. For more information on SHTAC’s previous research into metabolic disorders, please visit our Research page.



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