<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Over the last two decades, gene therapy has been successfully translated to many rare diseases. The number of clinical trials is rapidly expanding and some gene therapy products have now received market authorisation in the western world. Inherited metabolic diseases (IMD) are orphan diseases frequently associated with a severe debilitating phenotype with limited therapeutic perspective. Gene therapy is progressively becoming a disease-changing therapeutic option for these patients. In this review, we aim to summarise the development of this emerging field detailing the main gene therapy strategies, routes of administration, viral and non-viral vectors and gene editing tools. We discuss the respective advantages and pitfalls of these gene therapy strategies and review their application in IMD, providing examples of clinical trials with lentiviral or adeno-associated viral gene therapy vectors in rare diseases. The rapid development of the field and implementation of gene therapy as a realistic therapeutic option for various IMD in a short term also require a good knowledge and understanding of these technologies from physicians to counsel the patients at best.</p></abstract>

Over the last two decades, gene therapy has been successfully translated to many rare diseases. The number of clinical trials is rapidly expanding and some gene therapy products have now received market authorisation in the western world. Inherited metabolic diseases (IMD) are orphan diseases frequently associated with a severe debilitating phenotype with limited therapeutic perspective. Gene therapy is progressively becoming a disease-changing therapeutic option for these patients. In this review, we aim to summarise the development of this emerging field detailing the main gene therapy strategies, routes of administration, viral and non-viral vectors and gene editing tools. We discuss the respective advantages and pitfalls of these gene therapy strategies and review their application in IMD, providing examples of clinical trials with lentiviral or adeno-associated viral gene therapy vectors in rare diseases. The rapid development of the field and implementation of gene therapy as a realistic therapeutic option for various IMD in a short term also require a good knowledge and understanding of these technologies from physicians to counsel the patients at best.

Gene therapy for inherited metabolic diseases

Journal of Mother and Child

This work is licensed under the Creative Commons Attribution 4.0 International License.

{"article-title":"Gene therapy for inherited metabolic diseases"}

Over the last two decades, gene therapy has been successfully translated to many rare diseases. The number of clinical trials is rapidly expanding and some...

Gene therapy for inherited metabolic diseases

Article Category: Review paper

Published Online: Nov 10, 2020

Page range: 53 - 64

DOI: https://doi.org/10.34763/jmotherandchild.20202402si.2004.000009

Keywords
adeno-associated virus, gene therapy, inherited metabolic disease, lentivirus, messenger RNA, zinc finger nuclease

© 2020 Seker Yilmaz et al, published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Gene therapy for inherited metabolic diseases

Article Category: Review paper

Published Online: Nov 10, 2020

Page range: 53 - 64

DOI: https://doi.org/10.34763/jmotherandchild.20202402si.2004.000009

Keywordsadeno-associated virus, gene therapy, inherited metabolic disease, lentivirus, messenger RNA, zinc finger nuclease

© 2020 Seker Yilmaz et al, published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Keywords
adeno-associated virus, gene therapy, inherited metabolic disease, lentivirus, messenger RNA, zinc finger nuclease