Back to Journals » The Application of Clinical Genetics » Volume 8

Recent advances in gene therapy for lysosomal storage disorders

Authors Rastall D, Amalfitano A

Received 20 February 2015

Accepted for publication 3 April 2015

Published 23 June 2015 Volume 2015:8 Pages 157—169


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 5

Editor who approved publication: Prof. Dr. Martin H. Maurer

David PW Rastall,1 Andrea Amalfitano1,2

1Department of Microbiology and Molecular Genetics, 2Department of Pediatrics, College of Osteopathic Medicine, Michigan State University, East Lansing, MI, USA

Abstract: Lysosomal storage disorders (LSDs) are a group of genetic diseases that result in metabolic derangements of the lysosome. Most LSDs are due to the genetic absence of a single catabolic enzyme, causing accumulation of the enzyme's substrate within the lysosome. Over time, tissue-specific substrate accumulations result in a spectrum of symptoms and disabilities that vary by LSD. LSDs are promising targets for gene therapy because delivery of a single gene into a small percentage of the appropriate target cells may be sufficient to impact the clinical course of the disease. Recently, there have been several significant advancements in the potential for gene therapy of these disorders, including the first human trials. Future clinical trials will build upon these initial attempts, with an improved understanding of immune system responses to gene therapy, the obstacle that the blood–brain barrier poses for neuropathic LSDs, as well other biological barriers that, when overcome, may facilitate gene therapy for LSDs. In this manuscript, we will highlight the recent innovations in gene therapy for LSDs and discuss the clinical limitations that remain to be overcome, with the goal of fostering an understanding and further development of this important field.

Keywords: human trials, clinical trials, gene therapy, lysosomal storage disease, blood-brain barrier, adeno-associated virus, lentivirus, adenovirus


Creative Commons License This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

Download Article [PDF]  View Full Text [HTML][Machine readable]