3 The technology

3.1 Eliglustat (Cerdelga, Sanofi Genzyme) is a substrate reduction therapy that partially inhibits the enzyme glucosylceramide synthase. This action results in reduced production of glucosylceramide and so fewer Gaucher cells. It is given orally.

3.2 Eliglustat has a marketing authorisation in the UK for the long-term treatment of type 1 Gaucher disease in adults who are cytochrome P450 2D6 (CYP2D6) poor, intermediate or extensive metabolisers. The recommended dosage stated in the summary of product characteristics is 84 mg eliglustat (equivalent to the 100 mg eliglustat tartrate dose used in the clinical trials) twice daily in CYP2D6 intermediate and extensive metabolisers, and 84 mg eliglustat once daily in CYP2D6 poor metabolisers.

3.3 The summary of product characteristics lists the following adverse reactions for eliglustat: headache, nausea, diarrhoea, abdominal pain, flatulence, joint pain and fatigue. For full details of adverse reactions and contraindications, see the summary of product characteristics.

3.4 The list price of eliglustat is £342.23 per capsule. People who are intermediate or extensive metabolisers would be expected to have an average of 730.5 capsules a year, so the total annual drug cost per person would be approximately £250,000. People who are poor metabolisers would be expected to have an average of 365.25 capsules per year per person, so the total annual drug cost would be approximately £125,000. The company has agreed a patient access scheme, in which eliglustat 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.

  • National Institute for Health and Care Excellence (NICE)