National Institute for Health and Clinical Excellence (NICE)
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NICE asks company for further information on drug for rare inherited disease in draft guidance

In draft guidance produced by its Highly Specialised Technologies programme, NICE has asked BioMarin to provide more information about its drug elosulfase alfa (Vimizim) for treating the very rare inherited disease mucopolysaccharidosis type IVa (also known as MPS IVa and Morquio A syndrome).

The draft guidance asks the company to provide a number of further details to support NICE’s evaluation, including an explanation of the cost of elosulfase alfa, additional economic analyses, information on the budget impact of the drug, and details of the criteria for using elosulflase alfa in clinical practice.  

MPS IVa is a lysosomal storage disease that affects the major organ systems in the body. People born with the disease lack an enzyme - N‑acetylgalactosamine‑6‑sulfatase - that breaks down large sugar molecules (glycosaminoglycans) the body’s cells can’t use. This leads to an accumulation of glycosaminoglycans in the cells of several tissues and organs, causing progressive tissue damage.

The signs and symptoms of MPS IVa typically appear in early childhood. It causes a wide range of symptoms that worsen over time. Joint and skeletal abnormalities lead to short stature, difficulties with breathing and movement, and spinal cord damage. Hearing and vision loss, heart valve disease, pain, fatigue, progressive loss of endurance and increasing dependence on wheelchairs are also associated with the disease.

MPS IVa can lead to reduced life expectancy - the average life expectancy in people with this condition is about 25 years - primarily because of respiratory failure and heart problems (63% and 15% of deaths respectively). Spinal cord damage also has a significant impact on life expectancy, as well as affecting mobility and quality of life for people with MPS IVa.

There are currently 88 people living with MPS IVa in England, and about 3 new diagnoses made each year.

Before elosulfase alfa became available there was no treatment for the underlying disease. Because the condition is so rare and the symptoms so diverse, there is no standard treatment or pathway of care. Management may include surgery for skeletal problems, respiratory support, drugs to manage heart disease, dental and eye care, pain relief, and hearing aids and ventilating tubes to manage deafness and middle ear effusions.

Elosulfase alfa is a drug consisting of the N-acetylgalactosamine-6-sulfatase enzyme. It is intended to replace the enzyme lacking in people with MPS IVa.  

Commenting on the draft guidance, Professor Carole Longson, NICE Health Technology Evaluation Centre Director, said: “MPS IVa is a serious condition that severely affects life expectancy and quality of life. The evidence shows that elosulfase alfa is likely to provide valuable clinical benefits for certain aspects of the condition, including quality of life. The Committee also considered that elosulfase alfa can provide benefits beyond the direct health benefits – for example, by improving endurance and reducing fatigue, people with MPS IVa could continue working.

“However, the independent Committee noted that elosulfase alfa would not affect spinal cord or skeletal damage, and would not entirely stop disease progression, both of which significantly affect quality and length of life in people with MPS IVa. The Committee felt that the company’s economic model had overestimated the clinical benefits of elosulfase alfa.

“Treatments for very rare conditions that affect just a few people in the country are often more expensive than treatments for more common diseases – among other things companies have to recover their costs at much lower volumes. However, the Committee considered that in the case of elosulfase alfa, the reasons for its high cost – NICE estimates this to be £395,000 per person per year – had not been adequately explained by the company.

“Because of this cost and the fact that the clinical benefits had been overestimated in the company’s economic model, the Committee expressed concerns about the value for money provided by elosulfase alfa treatment. The Committee was therefore minded not to recommend elosulfase alfa for treating MPS IVa and has asked the company to provide further information about the cost of the drug and additional economic analysis exploring, among other things, more plausible rates of disease progression and alternative estimates for the benefit associated with elosulfase alfa.”

NICE has not yet issued final guidance to the NHS; these decisions may change after consultation. Consultees, including the company, healthcare professionals, patient/carer organisations and members of the public are now able to comment on the preliminary recommendations which are available for public consultation until 5pm on 23 June. Comments received during this consultation will be fully considered by the Committee at its next meeting in July and, following this meeting, the next draft guidance will be issued.


For more information call the NICE press office on 0845 003 7782 or out of hours on 07775 583 813.

 Notes to Editors

About the draft guidance

The draft guidance on elosulfase alfa will be available on the NICE website from 4 June 2015.

About elosulfase alfa

  1. Elosulfase alfa (Vimizim, BioMarin) is a recombinant form of the human N‑acetylgalactosamine‑6‑sulfatase enzyme. It is intended to replace the enzyme lacking in people with mucopolysaccharidosis type IVa (MPS IVa). Elosulfase alfa has a marketing authorisation in the UK for treating MPS IVa in people of all ages. It is given by intravenous infusion, over 4 hours, once a week. The recommended dosage is 2 mg/kg body weight each week, and is anticipated to continue lifelong.
  2. Elosulfase alfa is available in 5 ml vials containing 5 mg of elosulfase alfa, at a net price of £750 per vial (excluding VAT). NICE estimates that the average cost per year for elosulfase alfa is £394,680 per patient (based on the recommended dosage of 2 mg/kg/year and an average body weight of 25.3 kg). It is estimated that up to 77 people may want to have treatment with elosulfase alfa; the cost of elosulfase alfa could amount to £30million per year for treating this many people.
  3. The company has proposed a patient access agreement, in which elosulfase alfa would be provided at a discounted cost; the discount is commercial in confidence.

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