Experimental therapies in the neuronal ceroid lipofuscinoses

Nicole J Neverman; Hannah L Best; Sandra L Hofmann; Stephanie M Hughes

doi:10.1016/j.bbadis.2015.04.026

Experimental therapies in the neuronal ceroid lipofuscinoses

Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2292-300. doi: 10.1016/j.bbadis.2015.04.026. Epub 2015 May 6.

Authors

Nicole J Neverman¹, Hannah L Best¹, Sandra L Hofmann², Stephanie M Hughes³

Affiliations

¹ Department of Biochemistry, and Brain Health Research Centre, University of Otago, Dunedin, New Zealand; Batten Animal Research Network (BARN), New Zealand.
² University of Texas Southwestern Medical Center, Dallas, TX, USA.
³ Department of Biochemistry, and Brain Health Research Centre, University of Otago, Dunedin, New Zealand; Batten Animal Research Network (BARN), New Zealand. Electronic address: stephanie.hughes@otago.ac.nz.

PMID: 25957554
DOI: 10.1016/j.bbadis.2015.04.026

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)".

Keywords: Batten disease; Cell therapy; Enzyme replacement therapy; Gene therapy; Neuronal ceroid lipofuscinosis; Small molecule therapy.

Publication types

Review