A systematic review to evaluate the effectiveness of enzyme replacement therapy for lysosomal storage disorders in comparison to the treatment of similar diseases with higher prevalence

摘要: Significant challenges exist when submitting orphan drugs for reimbursement in a health care system. An assessment of value money is undertaken by comparing the costs and clinical effectiveness new technology to that an existing treatment. Orphan rarely have standard treatments, with which contrast technology. We aimed compare enzyme replacement therapy (ERT) rare diseases, recommended comparable but non-rare diseases (lifelong treatment, shortened life expectancy due disease), using number needed benefit (NNTB). A systematic review was performed identify randomised controlled trials (RCTs) ERT treatments three diseases; Fabry Disease, Hunter Syndrome (MPS II) Gaucher Disease Type 1. MEDLINE, MEDLINE In-Process Citations Daily Update, EMBASE, Cochrane Database Systematic Reviews, Central Register Controlled Trials, Abstracts Reviews Effects, Health Technology Assessment Database, ClinicalTrials.gov, metaRegister Trials WHO International Clinical Registry Platform were searched from inception August 2012. identified comparator studies NICE (UK) or IQWiG/G-BA (Germany), websites For each study, NNTB analyses primary outcome all (recommended) drug doses, at follow-up times. Ten RCTs (8 2 Syndrome, 0 Disease). Eleven ERTs; calculated mean absolute risk difference ranged 1.4 17.2 (median = 2.7). Seven disease multiple sclerosis, rheumatoid arthritis, type diabetes mellitus, peripheral arterial Alzheimer disease. Thirty-nine studies; -61.8 330.8 4.6). The median values lower than studies, suggesting therapies more effective diseases. Caution should be applied interpretation these results because limited bias, study size lack identical outcomes. Comparing non-orphan may provide additional information decision making.