Enzyme replacement therapy for Mucopolysaccharide Disease

The Willink Biochemical Genetics Unit is playing a key role in the global Phase 3 trial of an enzyme therapy to treat Morquio disease, a life-limiting form of mucopolysaccharide disease (MPS) which affects around 100 patients in the UK.

As a UK centre of excellence for MPS patients for 30 years, Manchester was chosen to participate in the worldwide trial of GALNS, an enzyme replacement therapy for Morquio disease developed by US pharmaceutical company BioMarin. The trial team is led by Dr Simon Jones, Consultant in Paediatric Inherited Metabolic Disease.

The GALNS therapy replaces a missing enzyme through a weekly intravenous infusion, and the six-month trial is looking at the impact of the therapy on stabilising Morquio disease and preventing progression. Manchester was one of only three sites in the world to host a Phase 1 trial of GALNS in 2009. Five patients participated and are continuing to receive the treatment. The current trial involves 176 patients at 31 sites in 17 countries worldwide, and Manchester recruited several of the first ten patients to join this trial. The worldwide trial results are expected early in 2013.

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