Jandhyala Ravi, Christopher Solomon
Medialis Ltd, 13 Horse Fair, Banbury, Oxford, OX16 0AH, UK.
Pharmaceut Med. 2020 Feb;34(1):31-38. doi: 10.1007/s40290-019-00316-w.
Rare diseases (defined as affecting < 1 in 2000 Europeans) may collectively affect up to approximately 8% of the population. The low prevalence of individual diseases limits patient studies and data collection is a key challenge; international rare disease patient registries are essential for optimal data collection and research. Registry data achieves value when research conducted on them are published-this is termed evidence generation.
The aim of this study was to examine selected factors and their association with evidence generation, via scientific publication, from international rare disease patient registry data.
All international rare disease patient registries listed in the Orphanet 2018 report were analysed. Rates of scientific publications were compared by funding stream, disease area and registry size using multivariable regression analyses. Publication characteristics, such as novelty of findings, were also compared by registry funding stream, disease area and duration of operation.
Privately funded registries had approximately two to four times higher rates of scientific publication compared with publically funded registries, with adjusted rate ratios of 1.85 (95% confidence interval [CI] 1.07-3.22) and 4.18 (95% CI 2.54-6.87) for private not-for-profit and private for-profit funding, respectively. The inclusion of outcomes, use of pharmaceutical medicines, novel findings and citation rate for publications generated from patient registries with any private funding was not significantly different from those attributed to only publicly funded registries.
The results of this study indicate that privately funded international rare disease patient registries produce significantly more evidence than their publicly funded counterparts. Examination of the quality indicators of these publications showed they were of the same high quality as those generated from publicly funded patient registry data.
罕见病（定义为每2000名欧洲人中患病人数少于1人的疾病）合计可能影响约8%的人口。单种疾病的低患病率限制了患者研究，数据收集是一项关键挑战；国际罕见病患者登记处对于优化数据收集和研究至关重要。当基于登记处数据开展的研究发表时，登记处数据便实现了价值，这被称为证据生成。
本研究旨在通过科学发表，考察国际罕见病患者登记处数据中选定因素及其与证据生成的关联。
对《2018年罕见病信息网报告》中列出的所有国际罕见病患者登记处进行分析。使用多变量回归分析，按资金来源、疾病领域和登记处规模比较科学发表率。还按登记处资金来源、疾病领域和运营时长比较发表特征，如研究结果的新颖性。
与公共资助的登记处相比，私人资助的登记处科学发表率高出约两到四倍，私人非营利性和私人营利性资助的调整后发表率比值分别为1.85（95%置信区间[CI]1.07 - 3.22）和4.18（95%CI 2.54 - 6.87）。有任何私人资助的患者登记处产生的出版物在纳入结局、使用药物、新颖研究结果和引用率方面，与仅由公共资助的登记处产生的出版物并无显著差异。
本研究结果表明，私人资助的国际罕见病患者登记处比公共资助的登记处产生的证据显著更多。对这些出版物质量指标的考察表明，它们与公共资助的患者登记处数据产生的出版物质量一样高。
