3 The technology
3.1 Cerliponase alfa (Brineura, BioMarin) is an enzyme replacement therapy consisting of a recombinant form of human tripeptidyl peptidase 1. It is expected to restore deficient tripeptidyl peptidase 1 (TPP1) activity in the brain caused by the genetic mutation. Cerliponase alfa has a UK marketing authorisation granted under 'exceptional circumstances' for 'the treatment of neuronal ceroid lipofuscinosis type 2 (CLN2) disease', also known as TPP1 deficiency.
3.2 Cerliponase alfa is administered into the cerebrospinal fluid by infusion via a surgically implanted intracerebroventricular access device (reservoir and catheter). It must only be given in a healthcare setting by a trained healthcare professional knowledgeable in intracerebroventricular infusion administration. The recommended dose is 300 mg cerliponase alfa once every other week, but lower doses are recommended in patients under 2 years.
3.3 The adverse reactions listed as very common (that is, occurring in 1 in 10 people or more) in the summary of product characteristics for cerliponase alfa include: hypersensitivity, upper respiratory tract infection, seizures, headache, irritability, cerebrospinal fluid pleocytosis, vomiting and pyrexia. For full details of adverse reactions and contraindications, see the summary of product characteristics.
3.4 The list price of cerliponase alfa in England is £20,107 per 300 mg pack (excluding VAT), consisting of 2×150 mg vials. The recommended dosage for those over 2 years old is 300 mg every other week (at an annual cost of £522,782 per person).