UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry

The UK FSHD Patient Registry aims to recruit any individual, from anywhere within the United Kingdom, with a diagnosis of fshd who may be interested in becoming involved in future planned clinical trials. Participants may be referred to the registry by health care professionals, genetic testing/laboratory centres who are aware of the registry. Alternatively, a participant may have discovered the registry via promotional activities or by their own online searches. After completing the consent process, participants are able to enter information on to the registry platform (note all forms are also available offline as well). This is an ongoing database and all participants will invited to update their information on an annual basis. The registry is sponsored by Muscular Dystrophy UK. The dataset is divided into two main sections: Mandatory items (Demographic information, genetic test result, clinical diagnosis, motor function and wheelchair use) and Highly encouraged items (Use of invasive and non-invasive ventilation, age of onset, retinal vascular disease, hearing loss, scapular fixation, pregnancy, family history, ethnic origin and other registry participation). The database is designed to be self reporting, however where specialised clinical or genetic information is required, the neuromuscular specialist in charge of the participants care can be invited to provide some additional information. The participant is able to select a health care provider from a pre-populated list at registration stage, if they wish to (optional feature). This information is included in the patient information and consent. Relevant R&amp;D approval has been sought.<br>

英国面肩肱型肌营养不良症（Facioscapulohumeral muscular dystrophy, FSHD）患者登记库旨在招募英国境内所有已确诊为FSHD且有意参与未来规划临床试验的个体。参与者可由知晓该登记库的医疗保健专业人员、基因检测/实验室中心转介，亦可通过宣传活动或自主网络搜索发现该登记库。完成知情同意流程后，参与者可在登记平台录入个人信息（注：所有表单亦支持线下填写）。本数据库为持续运维的项目，所有参与者每年都会收到更新个人信息的邀请。该登记库由英国肌肉萎缩症协会（Muscular Dystrophy UK）赞助。数据集分为两大核心板块：必填条目（人口统计学信息、基因检测结果、临床诊断、运动功能与轮椅使用情况）以及强烈建议填写条目（有创与无创通气使用情况、发病年龄、视网膜血管病变、听力损失、肩胛固定术、妊娠、家族病史、种族起源及其他登记参与相关信息）。本数据库采用自主报告模式，但如需获取专业临床或基因信息时，可邀请负责参与者诊疗的神经肌肉疾病专科医师提供补充信息。参与者在注册阶段可自主选择从预填充列表中选取医疗服务提供者（可选功能），该说明已纳入患者须知与知情同意文件中。目前已获取相关研发审批。