University of Rochester, Rochester, NY 14642, USA.
Contemp Clin Trials. 2013 Jul;35(2):48-54. doi: 10.1016/j.cct.2013.04.004. Epub 2013 Apr 26.
Juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) is a rare, inherited, fatal lysosomal storage childhood disorder. True for many rare diseases, there are no treatments that impact the course of JNCL. The University of Rochester Batten Center's (URBC) mission is to find treatments to slow, halt, or prevent JNCL.
Our initial objective was to develop clinical research infrastructure preparatory to clinical trials, establish a JNCL research cohort, construct a disease-specific clinical outcome measure, and validate a non-invasive diagnostic sampling method. The long-term objective is to design and implement JNCL clinical trials.
The Unified Batten Disease Rating Scale (UBDRS) was developed. The Batten Disease Support and Research Association (BDSRA) referred participants; annual BDSRA meetings provided a mobile research setting for registry enrollment and UBDRS piloting. Neuropsychological examinations were performed, enabling external validation of the UBDRS. Buccal epithelial cell collection for genotyping was introduced. Telemedicine for remote UBDRS assessment was piloted.
The registry enrolled 198 families representing 237 children with NCL. The UBDRS was piloted, was validated and has been used to collect natural history data from 120 subjects. Funding and regulatory approval were obtained for a recently launched phase II clinical trial. Several additional lines of inquiry were reported.
The registry and BDSRA collaboration have enabled development of a clinical rating scale, natural history and neuropsychological studies, and genetic studies for disease confirmation. This work highlights an approach for preparatory natural history research and infrastructure development needed to facilitate efficient implementation of clinical trials in rare diseases.
青少年神经元蜡样脂褐质沉积症（JNCL；Batten 病）是一种罕见的遗传性、致命性溶酶体贮积性儿童疾病。对于许多罕见疾病而言，目前尚无能够改变 JNCL 病程的治疗方法。罗切斯特大学 Batten 中心（URBC）的使命是寻找能够减缓、阻止或预防 JNCL 的治疗方法。
我们的初始目标是开发临床研究基础设施，为临床试验做准备，建立 JNCL 研究队列，构建疾病特异性临床结局衡量标准，并验证一种非侵入性的诊断性采样方法。长期目标是设计和实施 JNCL 临床试验。
开发了统一的 Batten 疾病评分量表（UBDRS）。Batten 疾病支持和研究协会（BDSRA）转介参与者；每年的 BDSRA 会议为登记注册和 UBDRS 试点提供了一个移动研究环境。进行了神经心理学检查，使 UBDRS 得到了外部验证。引入了用于基因分型的口腔上皮细胞采集。试点了远程 UBDRS 评估的远程医疗。
登记注册了 198 个家庭，代表了 237 名患有 NCL 的儿童。UBDRS 进行了试点，得到了验证，并已用于从 120 名患者中收集自然病史数据。最近启动的一项 II 期临床试验获得了资金和监管批准。还报告了其他几条研究线索。
登记注册和 BDSRA 合作使临床评分量表、自然病史和神经心理学研究以及疾病确认的遗传研究得以发展。这项工作强调了一种方法，可用于为罕见疾病临床试验的实施提供必要的预备性自然病史研究和基础设施开发。
