Reaching the right cells is one of the largest hurdles in developing treatments for CMT. Schwann cells (the cells that insulate and protect peripheral nerves) are particularly difficult to target. But a research team led by Alexia Kagiava, PhD, at the Cyprus Institute of Neurology and Genetics is on a mission to change that.
With joint funding of $299,992 from CMTA and the Muscular Dystrophy Association (MDA), Dr. Kagiava’s team is developing nanoparticle-based delivery systems (microscopic mail carriers) designed to deliver genetic therapies directly into Schwann cells affected by CMTX1 (also known as CMT1X or CMTX).
Why Delivery Matters
CMTX1 is caused by mutations in the GJB1 gene, which helps Schwann cells communicate and maintain healthy myelin around peripheral nerves. When this gene mutates, the Schwann cells are unable to communicate effectively, causing the myelin to break down and leading to nerve damage. One approach to solving this communication breakdown is genetic therapy.
Getting genetic therapies into Schwann cells is complex because the body’s natural protective barriers, like the blood-nerve barrier, are designed to block most foreign substances. Nanoparticles offer a potential solution, however, to transport treatments directly to the cells where they are needed.
What the Research Shows
In this latest phase of the project, Dr. Kagiava’s team produced and tested nanoparticles designed to carry gene-based treatments to Schwann cells. They studied how well these tiny particles moved through the body, whether they could reach the peripheral nerves where the therapy is needed, and how safely they made that delivery. The results are encouraging.
The nanoparticles successfully reached nerve cells while showing limited spread to other organs, suggesting a safer profile than conventional viral delivery systems such as AAV-9 (a standard lab-made virus used to deliver genetic treatments to nerves).
Working with research partners, the team also tested a second nanoparticle design. It, too, reached Schwann cells, and the treatment activated once inside, showing that the approach was working as intended.
Pictured here on the right with CMTA Strategy To Accelerate Research (CMTA-STAR) Advisory Board member Kleopas Kleopa, MD, PhD, Dr. Kagiava presented data and progress on this project at the 2nd annual European CMT Specialists conference held in Antwerp in November 2025.
Why It Matters
For people with CMTX1 and other types of CMT caused by problems in Schwann cells, such as CMT1A and CMT1B, this progress is important because these subtypes cannot be fully treated unless therapy reaches the cells that maintain myelin. A delivery method that can safely and accurately target Schwann cells opens the door to genetic treatments that address the root cause, rather than only managing symptoms.
Delivery remains one of the most important barriers to effective treatments. CMTA-STAR has prioritized this challenge for many years, and this project continues that commitment to advancing delivery-focused solutions for the CMT community.
