A SYSTEMATIC LITERATURE REVIEW: ENZYME REPLACEMENT THERAPY IN MUCOPOLYSACCHARIDOSIS TYPE II Alegra T 1 , Eizerik D 1 , Cerqueira CCS 1 , Pereira TV 2 , Schwartz IVD 1 1 Univ Federal do Rio Grande do Sul, Porto Alegre, Brazil 2 Univ Federal de São Paulo, São Paulo, Brazil Enzyme replacement therapy with idursulfase (IDS) (0.5 mg/kg/every other week) is a therapeutic option for mucopolysaccharidosis (MPS) type II. Methodology: In order to examine the efficacy and safety of ERT, a systematic literature review was conducted until February 28, 2011. The inclusion criterion was being a randomized controlled trial (RCT); in the absence of at least 5 RCTs, prospective case series with ≥5 patients that evaluated relevant endpoints, previously defined by our research team, were also included. Results: Two RCTs comparing IDS to placebo and 2 open label trials were included. One RCT was a phase I/II trial (n=12 patients; 72 weeks), and the other a phase II/III trial (n=94; 54 weeks). Both demonstrated the following: reductions in urine glycosaminoglycans and hepatosplenomegaly, increase in the 6-minute walk test distance and pulmonary function; however, disease severity was heterogeneous between the groups at baseline. Both open-label studies revealed analogous benefits as described by the RCTs. Harmatz P 1 , Cheng S 2 , Martin K 2 , Burton B 3 , Giugliani R 4 , Guelbert N 5 , Guffon N 6 , Hendriksz C 7 , Hollak C 8 , Jones S 9 , Lin S 10 , Martins A 11 , Mengel E 12 , Mitchell J 13 , Parini R 14 , Valayannopoulos V Background: Mucopolysaccharidosis (MPS) Type VI is a lysosomal storage disorder characterized by a chronic, progressive course with multiorgan involvement. Methods: In our study, clinical, biochemical and radiological findings and response to enzyme replecement therapy for at least six months were analyzed in 20 patients with MPS VI. Any changes on clinical findings such as liver and spleen sizes, cardiac and respiratory parameters, endurance tests (6-minute walk test), changes in urinary glycosaminoglycan excretions, visual and auditory changes, and joints' range of motions before and after ERT were analyzed. Results: There was significant improvement in physical endurance with ERT (p<0.05). With ERT, there was an increase in growth rate but this was not statistically significant (p>0.05). Cardiac, respiratory, visual, auditory parameters were not been changed and there were no improvement on joint mobility (p>0.05). All patients and parents pointed out an increased quality of life, which did not correlate with clinical results. Conclusions: ERT caused increased physical capacity and decreased urinary dermatan sulphate/keratan sulphate ratios. No significant changes were observed in growth parameters, cardiac, respiratory, visual, auditory findings and joint mobility. ERT was safe but an expensive method for the treatment of MPS VI with mild benefits on severely affected cases.