Lacaze Paul, Millis Nicole, Fookes Megan, Zurynski Yvonne, Jaffe Adam, Bellgard Matthew, Winship Ingrid, McNeil John, Bittles Alan H
Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine, Monash University, Melbourne, Victoria, Australia.
Rare Voices Australia Ltd, Melbourne, Victoria, Australia.
Intern Med J. 2017 Sep;47(9):1075-1079. doi: 10.1111/imj.13528.
When registries collect accurate clinical data over time, they can act as fundamental support structures for patients and their families and powerful cost-effective instruments to support clinical trials and translational research to improve quality of care, quality of life and survival. Registries are critical for rare diseases (RD) with low prevalence and propensity for variation in treatment and outcomes. Rare Voices Australia is leading a call for action to the research and clinical community to prioritise RD data collection and develop an integrated RD Registry strategy for Australia. Financial, operational and governance challenges exist for establishing and maintaining RD registries. As a multidisciplinary team whose interests converge on RD, we highlight the need for the establishment of an Australian RD Registry Alliance. This 'umbrella' organisation will: (i) bring together existing RD registries across Australia; (ii) establish National RD Registry Standards to support interoperability and cohesion across registries; (iii) develop strategies to attract sustainable funding from government and other sources to maximise the utility of existing RD registries and support the development of new RD registries. The most important role for the Alliance would be to use the RD registries for translational research to address current knowledge gaps about RD and to improve the care for the over 1.4 million Australians estimated to live with RD.
随着时间的推移，登记处收集准确的临床数据后，可为患者及其家属提供基础支持结构，并成为支持临床试验和转化研究以提高医疗质量、生活质量和生存率的强大且具成本效益的工具。登记处对于患病率低且治疗和结果易变的罕见病至关重要。澳大利亚罕见病之声组织正在呼吁研究和临床界采取行动，优先收集罕见病数据，并为澳大利亚制定一项综合的罕见病登记策略。建立和维护罕见病登记处存在财务、运营和管理方面的挑战。作为一个兴趣集中在罕见病领域的多学科团队，我们强调需要建立一个澳大利亚罕见病登记联盟。这个“伞式”组织将：（i）汇集澳大利亚现有的罕见病登记处；（ii）制定国家罕见病登记标准，以支持各登记处之间的互操作性和凝聚力；（iii）制定策略，从政府和其他来源吸引可持续资金，以最大限度地发挥现有罕见病登记处的效用，并支持新的罕见病登记处的发展。该联盟最重要的作用将是利用罕见病登记处进行转化研究，以填补目前关于罕见病的知识空白，并改善对估计140多万患有罕见病的澳大利亚人的护理。
