Experimental gene therapies for the NCLs

Wenfei Liu; Sophia-Martha Kleine-Holthaus; Saul Herranz-Martin; Mikel Aristorena; Sara E Mole; Alexander J Smith; Robin R Ali; Ahad A Rahim

doi:10.1016/j.bbadis.2020.165772

Experimental gene therapies for the NCLs

Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165772. doi: 10.1016/j.bbadis.2020.165772. Epub 2020 Mar 24.

Authors

Wenfei Liu¹, Sophia-Martha Kleine-Holthaus², Saul Herranz-Martin³, Mikel Aristorena², Sara E Mole⁴, Alexander J Smith², Robin R Ali⁵, Ahad A Rahim⁶

Affiliations

¹ UCL School of Pharmacy, University College London, UK.
² UCL Institute of Ophthalmology, University College London, UK.
³ UCL School of Pharmacy, University College London, UK; Centro de Biología Molecular Severo Ochoa (UAM-CSIC) and Departamento de Biología Molecular,Universidad Autónoma de Madrid (UAM), Madrid, Spain.
⁴ MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK; UCL Great Ormond Street Institute of Child Health, 30 Guildford Street, London WC1N 1EH, UK.
⁵ UCL Institute of Ophthalmology, University College London, UK; NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust, UK.
⁶ UCL School of Pharmacy, University College London, UK. Electronic address: a.rahim@ucl.ac.uk.

PMID: 32220628
DOI: 10.1016/j.bbadis.2020.165772

Abstract

The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of rare monogenic neurodegenerative diseases predominantly affecting children. All NCLs are lethal and incurable and only one has an approved treatment available. To date, 13 NCL subtypes (CLN1-8, CLN10-14) have been identified, based on the particular disease-causing defective gene. The exact functions of NCL proteins and the pathological mechanisms underlying the diseases are still unclear. However, gene therapy has emerged as an attractive therapeutic strategy for this group of conditions. Here we provide a short review discussing updates on the current gene therapy studies for the NCLs.

Keywords: Batten disease; Clinical trials; Gene therapy; Neurodegeneration; Neuronal ceroid lipofuscinoses; Pre-clinical studies.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Animals
Genetic Therapy*
Humans
Neuronal Ceroid-Lipofuscinoses / genetics
Neuronal Ceroid-Lipofuscinoses / therapy*

Abstract

Publication types

MeSH terms

Grants and funding