3 The technology

3.1 Migalastat (Galafold, Amicus Therapeutics) 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. Mutations that produce a form of alpha‑gal A which responds to migalastat binding with a significant increase in function are known as amenable mutations. Amenability for migalastat is determined by checking the results of standard genetic testing against the migalastat amenability table: a list of all known amenable mutations compiled and kept up to date by the company as part of its marketing authorisation. Migalastat is a lifelong treatment and has a marketing authorisation in the UK for 'long‑term treatment of adults and adolescents aged 16 years and older with a confirmed diagnosis of Fabry disease (alpha-galactosidase A deficiency) and who have an amenable mutation'.

3.2 The summary of product characteristics lists adverse reactions for migalastat including: headache, gastrointestinal disorders, skin rash and itching, depression, palpitations, muscle spasms, pain, tiredness, vertigo, shortness of breath, nosebleeds, weight gain, paraesthesia, proteinuria and increased creatine phosphokinase levels. For full details of adverse reactions and contraindications, see the summary of product characteristics.

3.3 The list price of migalastat is £16,153.85 per pack of 14 capsules (excluding VAT; company's evidence submission). The annual cost of treatment is £210,000 per patient (excluding VAT). The company has agreed a patient access scheme, in which migalastat would be provided with a discount. The discount is commercial in confidence and cannot be reported here. The Department of Health considered that this patient access scheme does not constitute an excessive administrative burden on the NHS.