title: Juvenile NCL (CLN3 Disease): Emerging Disease-Modifying Therapeutic Strategies.
abstract: Abstract Juvenile Neuronal Ceroid Lipofuscinosis is a lysosomal storage disease characterized pathologically by intracellular accumulation of autofluorescent storage material and neurodegeneration. Caused by mutations in the CLN3 gene on chromosome 16p12, the precise functions of the encoded protein remain unclear. Yet, recent preclinical discovery has established new therapeutic targets in development, including immunosuppressants, anti-inflammatories, and gene replacement therapies. Development of robust clinical trial endpoints appropriate for this poly-symptomatic disease, clinical trial design optimized for small samples, and adequate and efficient participant recruitment are challenges that lay ahead.
authors.forename: Erika F
authors.initials: EF
authors.lastname: Augustine
authors.forename: Jonathan W
authors.initials: JW
authors.lastname: Mink
mesh_terms: D000631:Aminopyridines / Q000627:therapeutic use; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use*; D015316:Genetic Therapy; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D008562:Membrane Glycoproteins / Q000235:genetics; D018832:Molecular Chaperones / Q000235:genetics; D009173:Mycophenolic Acid / Q000031:analogs & derivatives / Q000627:therapeutic use; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics / Q000276:immunology / Q000628:therapy*; D011241:Prednisone / Q000627:therapeutic use
chemical_list: D000631:Aminopyridines; D000893:Anti-Inflammatory Agents; C105199:CLN3 protein, human; D007166:Immunosuppressive Agents; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D009173:Mycophenolic Acid; C034161:flupirtine; D011241:Prednisone