■Duchenne和Becker肌营养不良症缺乏治愈性治疗。寄存器可以促进治疗发展,作为研究流行病学的平台,评估临床试验的可行性,确定合格的候选人,收集真实世界的数据,进行上市后监督,并在(国家间)数据驱动的举措中进行合作。
■在解决这些问题时,收集高质量的东西是至关重要的,可互换,以及来自代表性人群的可重用数据。我们介绍荷兰肌萎缩蛋白病数据库(DDD),DMD或BMD患者的国家注册,和具有致病性DMD变异的女性,概述它的设计,治理,和使用。
■DDD的设计基于独立于系统的信息模型,该模型可确保可互操作和可重用的数据符合国际标准。为了最大限度地提高入学率,患者可以在线提供同意书,并允许不同级别的参与,最低要求是联系方式和临床诊断.参与者可以选择参加有关疾病里程碑和药物的年度在线问卷调查,并从访问国家参考中心之一存储临床数据。治理涉及一个普通董事会,咨询委员会和数据库管理。
■2023年11月1日,742名参与者注册。自我报告的数据由291Duchenne提供,122Becker和38名女性参与者。96%的参与者访问参考中心同意存储临床数据。符合条件的患者通过DDD被告知临床研究,多个数据请求已被批准使用编码的临床数据进行质量控制,流行病学和自然史研究。
■荷兰肌营养不良症数据库获取长期患者和高质量标准化临床医生报告的医疗保健数据,支持审判准备,上市后监督,和有效的数据使用多中心设计,可扩展到其他神经肌肉疾病。
UNASSIGNED: Duchenne and Becker muscular dystrophy lack curative treatments. Registers can facilitate therapy development, serving as a platform to study epidemiology, assess clinical trial feasibility, identify eligible candidates, collect real-world data, perform post-market surveillance, and collaborate in (inter)national data-driven initiatives.
UNASSIGNED: In addressing these facets, it\'s crucial to gather high-quality, interchangeable, and reusable data from a representative population. We introduce the Dutch Dystrophinopathy Database (DDD), a national registry for patients with DMD or BMD, and females with pathogenic DMD variants, outlining its design, governance, and use.
UNASSIGNED: The design of DDD is based on a system-independent information model that ensures interoperable and reusable data adhering to international standards. To maximize enrollment, patients can provide consent online and participation is allowed on different levels with contact details and clinical diagnosis as minimal requirement. Participants can opt-in for yearly online questionnaires on disease milestones and medication and to have clinical data stored from visits to one of the national reference centers. Governance involves a general board, advisory board and database management.
UNASSIGNED: On November 1, 2023, 742 participants were enrolled. Self-reported data were provided by 291 Duchenne, 122 Becker and 38 female participants. 96% of the participants visiting reference centers consented to store clinical data. Eligible patients were informed about clinical studies through DDD, and multiple data requests have been approved to use coded clinical data for quality control, epidemiology and natural history studies.
UNASSIGNED: The Dutch Dystrophinopathy Database captures long-term patient and high-quality standardized clinician reported healthcare data, supporting trial readiness, post-marketing surveillance, and effective data use using a multicenter design that is scalable to other neuromuscular disorders.