In a groundbreaking three-year joint project between the Charcot-Marie-Tooth Association (CMTA) and the Muscular Dystrophy Association (MDA), researchers led by Alexia Kagiava, PhD, at the Cyprus Institute of Neurology and Genetics are pioneering the use of nanoparticles to develop gene therapy approaches for three common types of CMT: CMT1A, CMT1B, and CMTX1 (also known as CMT1X or CMTX). The gene mutations responsible for these types of CMT—mutations of the PMP22 gene for CMT1A, the MPZ gene for CMT1B, and the GJB1 gene for CMTX1—affect the specialized cells that produce and regulate peripheral nerve myelin, known as Schwann cells.

Delivering gene therapies to Schwann cells poses a significant challenge due to the distance these therapies must travel once administered and the protective blood-nerve barrier that shields the peripheral nerves. Nanoparticles offer an encouraging solution as they can cross this barrier and deliver gene therapies directly to the cells where these genes function.

Since the project began last fall, Dr. Kagiava and her team have been diligently optimizing the size of the nanoparticles to ensure they are small enough to penetrate Schwann cells while remaining capable of delivering the necessary gene therapies effectively. This delicate balance is crucial for the success of the treatment, as the nanoparticles must be able to traverse the body’s barriers and reach their target without losing the ability to deliver the therapy to the cell.

This project illustrates CMTA’s commitment to advancing scientific exploration and laying the groundwork for innovative treatments for several types of CMT. The potential of nanoparticle technology in gene therapy represents a significant leap forward in CMT research. By overcoming the obstacles of delivery and targeting, nanoparticles could revolutionize how gene therapies are administered, making treatments more effective and accessible.

The implications of this research are vast. Successfully developing nanoparticles for gene therapy could pave the way for similar approaches in treating many types of CMT. It underscores the importance of interdisciplinary collaboration and the continuous pursuit of innovative solutions to CMT’s complex challenges.

CMTA, through its Strategy To Accelerate Research (STAR) initiative, continues to support and monitor this innovative research closely. The dedication to exploring cutting-edge therapies highlights CMTA’s role as a leader in CMT research and its unwavering commitment to improving the lives of those affected by this often-overlooked disease.

As this encouraging project unfolds, it brings renewed optimism to the CMT community. The advancements could soon translate into real-world treatments, offering hope for a brighter future for people with CMT.

Published: July 31, 2024

Register with Patients as Partners in Research Today

Not yet registered with Patients as Partners in Research? Click the button below to register today! Registering ensures you are the first in line for any CMT research opportunity you might be eligible for and are interested in. Registering will ensure you are updated on all the latest news and developments in CMT research. Registration is free, and all who have CMT are invited to join.

Create Your Patients as Partners in Research Profile