Abstract：
Inherited neuromuscular diseases (NMDs) are genetic disorders that affect the skeletal muscles or the nerves controlling muscle function. With a new generation of diagnostic options and recent advances in translational research improving the opportunities for therapy development for these rare conditions, capturing patient information in databases collecting a range of clinical and genetic data together with contact details has assumed an increasingly important role in trial planning and recruitment as well as natural history data collection. Here we provide an overview of a decade of patient registration activities in the NMD field, with a particular focus on patient registries set up with trial readiness in mind. A summary is provided of databases collecting precise genetic information focused on confirming the causative mutation and their evolution into registries that combine genetic data with additional clinical information useful for trial feasibility and recruitment. Use of these systems for a range of purposes beyond trial recruitment, including natural history assessment, care standards monitoring, genotype-phenotype correlation and disease burden evaluation is also described within the context of research networks (TREAT-NMD) and European Reference Networks (ERN-EURO-NMD). New initiatives including registries using controlled vocabularies for computational accessibility that focus on phenotypic data capture for gene discovery are analysed, and examples of the lessons learned at every stage are provided in order to allow new patient registration initiatives to benefit from the extensive experience gained.
摘要：
遗传性神经肌肉疾病（NMD）是影响骨骼肌或控制肌肉功能的神经的遗传性疾病。随着新一代的诊断选择和转化研究的最新进展，改善了这些罕见疾病的治疗发展机会，在收集一系列临床和遗传数据的数据库中捕获患者信息以及联系方式,在试验计划和招募以及自然历史数据收集中发挥着越来越重要的作用.在这里，我们概述了NMD领域十年的患者注册活动，特别关注患者登记处，并考虑到试验准备情况。提供了收集精确遗传信息的数据库的摘要，该数据库集中于确认致病突变及其进化到注册表中，该注册表将遗传数据与对试验可行性和招募有用的其他临床信息相结合。将这些系统用于审判招募以外的一系列目的，包括自然史评估，护理标准监测，还在研究网络(TREAT-NMD)和欧洲参考网络(ERN-EURO-NMD)的背景下描述了基因型-表型相关性和疾病负担评估.分析了新的举措，包括使用受控词汇表进行计算可访问性的注册中心，重点是针对基因发现的表型数据捕获，并提供了在每个阶段吸取的经验教训的例子，以便使新的患者注册计划能够从获得的广泛经验中受益。
