NICE Grants Routine Access to Treatment for a Rare Metabolic Disorder

Pavankumar Kamat

March 22, 2022

In a draft guidance published yesterday, The National Institute for Health and Care Excellence (NICE) has recommended elosulfase alfa (Vimizin; BioMarin) for routine use within the NHS for the treatment of mucopolysaccharidosis type 4A (MPS 4A), also known as Morquio A syndrome in individuals of all ages.  

With this, elosulfase alfa becomes the first routinely approved treatment for the rare, life-limiting disorder. There are an estimated 90 individuals with the condition in England. 

Rare Yet Progressive Condition

MPS 4A is a rare yet progressive inherited lysosomal storage disease, significantly affecting the quality of life of patients, and their families and carers. The condition results from absence of the enzyme N-acetylgalactosamine-6-sulfatase which leads to accumulation of glycosaminoglycans in cells. 

The condition is characterised by rheumatologic abnormalities, respiratory symptoms, hearing and vision loss, pain, fatigue, impaired heart valve function, and progressive disability. Current treatment options for the condition are limited. The average life expectancy of patients not treated with elosulfase alfa is likely to be around 25 years. 

NHS Medical Director Prof Steve Powis said: "This is a hugely significant milestone for people with this debilitating, genetic condition, who will now be able to access this first of its kind treatment for Morquio A syndrome routinely on the NHS, after we struck a deal that is affordable for the taxpayer." 


The recommendation was issued on the basis of real-world clinical data from 69 individuals who received NHS-funded treatment for MPS 4A under the managed access agreement since 2015. Of these, 26 had received elosulfase alfa as part of the MOR clinical trials, which included a 24-week randomised controlled trial (MOR-004) and an open-label extension study (MOR-005). The clinical evidence along with expert opinion, suggested that elosulfase alfa may slow down the progression of MPS 4A. 

Helen Knight, acting interim director of medicines evaluation at NICE, said: "The arrangement to give access to elosulfase alfa while further data was collected on its clinical and cost-effectiveness was the first of its kind to have been attempted in the NHS in England. Today’s announcement demonstrates the value of this approach, with patient groups, clinicians, academics, companies, NICE and NHSE all working together to improve the lives of people with rare diseases." 

NHS England will purchase the drug below its list price (£750 per 5-mg vial) under a commercial agreement with the manufacturer. The final guidance is expected to be published in April 2022. 

No Patient Should be Left Behind

Disability rights activist and the founder of My Way Access, Dermot Devlin expressed delight at the decision. He said in a tweet: "It was a worrying time, as the axe was over our heads for a long time. Not knowing if the life-changing medication would continue. Thankfully the evidence showed that 'the health and quality of life benefits to patients to be substantial.'"

Mr Devlin has urged the Minister of Health for Northern Ireland, Robin Swann, to extend the approval to Northern Ireland. He added: "However, with the Northern Ireland Executive collapsed and no sign of being restored, I ask if Robin Swann MoH has the Ministerial power to extend that approval to here?"


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