期刊
CONTEMPORARY CLINICAL TRIALS
卷 35, 期 2, 页码 48-54出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.cct.2013.04.004
关键词
Juvenile neuronal ceroid lipofuscinosis; Rare disease; Patient registry; Clinical trials; Patient advocacy; Subject recruitment
资金
- URBC
- Batten Disease Support and Research Association
- National Institute of Neurological Disorders and Stroke [R01NS060022, K12 NS066098, U54NS065768, K23 NS058756]
- Luke & Rachel Batten Foundation
- Food and Drug Administration Orphan Products Grants Program [1 R01 FD003908-01]
Introduction: Juvenile neuronal ceroid lipofuscinosis UNCL; 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. Objectives: 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. Methods: 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. Results: 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. Conclusion: 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. (C) 2013 Elsevier Inc. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据