Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England

Publication date: Available online 30 July 2019Source: Molecular Genetics and MetabolismAuthor(s): A. Broomfield, J. Davison, J. Roberts, C. Stewart, P. Hensman, C. Beesley, K. Tylee, S. Rust, B. Schwahn, E. Jameson, S. Vijay, S. Santra, S. Sreekantam, U. Ramaswami, A. Chakrapani, J. Raiman, M.A. Cleary, S.A. JonesAbstractThe outcome of 110 patients with paediatric onset mucopolysaccharidosis II (MPS II) since the commercial introduction of enzyme replacement therapy (ERT) in England in 2007 is reported.Median length of follow up was 10 years 3 months (range = 1 y 2 m to 18 years 6 month). 78 patients were treated with ERT, 18 had no ERT or disease modifying treatment 7 had haematopoietic stem cell transplant, 4 experimental intrathecal therapy and 3 were lost to follow up. There is clear evidence of improved survival (median age of death of ERT treated (n = 16) = 15.13 years (range = 9.53 to 20.58 y), and untreated (n = 17) = 11.43 y (0.5 to 19.13 y) p = .0005). Early introduction of ERT improved respiratory outcome at 16 years, the median FVC (% predicted) of those in whom ERT initiated <8 years = 69% (range = 34–86%) and 48% (25–108) (p = .045) in those started>8 years. However, ERT appears to have minimal impact on hearing, carpal tunnel syndrome or progression of cardiac valvular disease. Cardiac valvular disease occurred in 18/46 (40%), with progression occurring most frequently in the aortic valv...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research