Experimental therapies in the neuronal ceroid lipofuscinoses

Nicole J. Neverman, Hannah L. Best, Sandra L. Hofmann, Stephanie M. Hughes

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

The neuronal ceroid lipofuscinoses represent a group of severe childhood lysosomal storage diseases. With at least 13 identified variants they are the most common cause of inherited neurodegeneration in children. These diseases share common pathological characteristics including motor problems, vision loss, seizures, and cognitive decline, culminating in premature death. Currently, no form of the disease can be treated or cured, with only palliative care to minimise discomfort. This review focuses on current and potentially ground-breaking clinical trials, including small molecule, enzyme replacement, stem cell, and gene therapies, in the development of effective treatments for the various disease subtypes. This article is part of a Special Issue entitled: "Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease)".

Original languageEnglish (US)
Pages (from-to)2292-2300
Number of pages9
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Volume1852
Issue number10
DOIs
StatePublished - Oct 1 2015

Keywords

  • Batten disease
  • Cell therapy
  • Enzyme replacement therapy
  • Gene therapy
  • Neuronal ceroid lipofuscinosis
  • Small molecule therapy

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine

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