2 September 2015 - In further draft guidance as part of its Highly Specialised Technologies Programme, NICE has provisionally recommended Elosulfase alfa (Vimizin, BioMarin Pharma) for the treatment of a very rare inherited lysosomal storage disease, if specific conditions are met.

Elosulfase alfa treats mucopolysaccharidosis type IVa (also known as MPS IVa and Morquio A syndrome), an extremely rare - it affects around 88 people in England - but life-limiting disease. 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. The resulting accumulation of glycosaminoglycans in the cells of tissues and organs causes a wide range of symptoms that typically appear in early childhood and worsen over time. These include joint and skeletal abnormalities, hearing and vision loss, heart valve disease, pain, fatigue, and progressive loss of endurance leading to increasing dependence on wheelchairs.

MPS IVa leads 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).

Elosulfase alfa is an enzyme replacement therapy consisting of the N-acetylgalactosamine-6-sulfatase enzyme. It replaces the enzyme lacking in people with MPS IVa.

For more details, go to: http://www.nice.org.uk/News/Press-and-Media/nice-draft-guidance-conditionally-recommends-elosulfase-alfa-vimizim-for-treatment-of-very-rare-life-limiting-genetic-disorder