International FOP Association, 1520 Clay St, Suite H2, North Kansas City, MO 64116, USA.
Alexion Pharmaceuticals, 33 Hayden Parkway, Lexington, MA 02421, USA.
Bone. 2018 Apr;109:285-290. doi: 10.1016/j.bone.2017.08.032. Epub 2017 Sep 1.
The Fibrodysplasia Ossificans Progressiva (FOP) Connection Registry is an international, voluntary, observational study that directly captures demographic and disease information initially from patients with FOP (the patient portal) and in the near future from treating physicians (the physician portal) via a secure web-based tool. It was launched by the International FOP Association (IFOPA) with a guiding vision to develop and manage one unified, global, and coordinated Registry allowing the assembly of the most comprehensive data on FOP. This will ultimately facilitate greater access and sharing of patient data and enable better and faster development of therapies and tracking their long-term treatment effectiveness and safety. This report outlines the FOP Connection Registry's design and procedures for data collection and reporting, as well as the long-term sustainability of Registry. Patient-reported, aggregate data are summarized for the first 196 enrolled patients, representing participation from 42 countries and approximately 25% of the world's known FOP population. Fifty-seven percent of the current Registry participants are female with a mean age of 23.8years (median=21years, range=1, 76years). Among the Registry participants who provided their FOP type, 51% reported FOP Classic (R206H), 41% reported FOP Type Unknown, and 8% reported FOP Variant. Patients reported 5.4years (median=3.0years, range=0, 45.8years) as the mean age at which they noticed their first FOP symptoms and a mean age at final FOP diagnosis of 7.5years (median=5.0years, range=0.1, 48.4years). Information on the patients' diagnostic journeys in arriving at a correct diagnosis of FOP is also presented. These early patient-reported data suggest that the IFOPA's vision of one, unified, global, and coordinated approach to the FOP Connection Registry is well underway to being realized. In addition, the positive response from the FOP patient community to the initial launch of the Registry's patient portal has created a solid foundation upon which to build the largest international registry for monitoring the clinical progression of FOP among patients.
纤维性骨发育不良进展性（FOP）连接注册中心是一项国际性、自愿性、观察性研究，最初通过一个安全的基于网络的工具，直接从 FOP 患者（患者门户）收集人口统计学和疾病信息，在不久的将来从治疗医生（医生门户）收集信息。该注册中心由国际 FOP 协会（IFOPA）发起，其指导愿景是开发和管理一个统一的、全球性的、协调的注册中心，以便汇集关于 FOP 的最全面数据。这最终将促进更好地获取和共享患者数据，并能够更快地开发治疗方法，并跟踪其长期治疗效果和安全性。本报告概述了 FOP 连接注册中心的数据收集和报告的设计和程序，以及注册中心的长期可持续性。对前 196 名入组患者的汇总数据进行了总结，这些患者代表来自 42 个国家的约 25%的已知 FOP 人群。目前注册中心参与者中 57%为女性，平均年龄为 23.8 岁（中位数=21 岁，范围=1 至 76 岁）。在提供其 FOP 类型的注册中心参与者中，51%报告为 FOP 经典型（R206H），41%报告为 FOP 类型未知，8%报告为 FOP 变异型。患者报告的首次出现 FOP 症状的平均年龄为 5.4 岁（中位数=3.0 岁，范围=0 至 45.8 岁），最终 FOP 诊断的平均年龄为 7.5 岁（中位数=5.0 岁，范围=0.1 至 48.4 岁）。还介绍了患者到达 FOP 正确诊断的诊断之旅的相关信息。这些早期患者报告的数据表明，IFOPA 建立一个统一的、全球性的、协调的 FOP 连接注册中心的愿景正在逐步实现。此外，FOP 患者社区对注册中心患者门户的初步推出做出的积极响应，为建立监测 FOP 患者临床进展的最大国际注册中心奠定了坚实的基础。
