Article
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.
Contemporary clinical trials - 1 Jul 2013
de Blieck Elisabeth A, Augustine Erika F, Marshall Frederick J, Adams Heather, Cialone Jennifer, Dure Leon, Kwon Jennifer M, Newhouse Nicole, Rose Katherine, Rothberg Paul G, Vierhile Amy, Mink Jonathan W
Abstract excerpt
INTRODUCTION: 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...
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