Researchers have developed a gene therapy approach that improves muscle strength and quality in mouse models of lower limb Muscular Dystrophy (MDS) a common genetic disorder of the sympathetic nervous system that impairs muscle coordination and movement. Published in the June issue of the Journal of the American College of Neurology the work provides a foundation for future studies in human patients and demonstrates a new approach to treating muscle and nerve diseases including those occurring in older patients.

This work contributes to many imaginations and offers hope for patients said Dr. Michael Gorelick co-first author and a postdoctoral researcher at Boston Childrens Hospital (BCH). A new effort will explore if gene therapy can be used in combination with other approaches to enhance muscle strength and function.

MDS can cause muscle weakness weakness or premature ageing resulting in the loss of quality of life following nerve damage and pain.

Programmable gene therapies are increasingly used as a new approach to addressing neurodegenerative diseases.

Related gene therapies rely on engineers engineering synthetic proteins to treat diseases such as Huntingtons disease and Alzheimers disease through the use of gene-edited cells or gene-substitution technology. As a result a body of work in gene therapies now centers around the engineering of gene therapies that actively target and fix defective proteins to restore normal brain activity and correct neurological diseases. However the precise targeting andor correction of defective proteins often needs to be sacrificed for the approach to be successful. In this study the researchers opted for a more targeted approach developing a new gene therapy that delivers a component of damaged proteins rather than a whole protein.

This is a major advance in gene therapy on the reduction of the load of proteins that ultimately leads to muscle weakness in this disease said Philippe Morkov Ph. D. a senior author and an associate professor of biomedical engineering at the BCH.