• Contemp Clin Trials · Jul 2013

    Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.

    • Elisabeth A de Blieck, Erika F Augustine, Frederick J Marshall, Heather Adams, Jennifer Cialone, Leon Dure, Jennifer M Kwon, Nicole Newhouse, Katherine Rose, Paul G Rothberg, Amy Vierhile, Jonathan W Mink, and Batten Study Group.
    • University of Rochester, Rochester, NY 14642, USA. lisa.deblieck@chet.rochester.edu
    • Contemp Clin Trials. 2013 Jul 1;35(2):48-54.

    IntroductionJuvenile 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.ObjectivesOur 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.MethodsThe 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.ResultsThe 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.ConclusionThe 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.Copyright © 2013 Elsevier Inc. All rights reserved.

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