With joint funding of $299,992 from CMTA and the Muscular Dystrophy Association (MDA), researchers at the Cyprus Institute of Neurology and Genetics, led by Alexia Kagiava, PhD, are developing innovative nanoparticle-based genetic therapies for CMTX1 (also called CMT1X or CMTX). CMTX1 is caused by mutations in the GJB1 gene, which disrupts Connexin32 (Cx32), a protein critical for Schwann cells to maintain the protective myelin sheath around nerves.
Earlier research from Dr. Kagiava’s team showed that delivering the healthy GJB1 gene to nerves using an AAV-9 viral vector improved movement and nerve function in a CMTX1 model. The team is now testing nanoparticles as an alternative delivery system for future genetic therapies.
October 2025 Update
In this phase of the project, the team produced and tested new nanoparticles designed to deliver genetic therapies directly to Schwann cells. This represents one of the biggest challenges in developing genetic therapies for CMTX1. The nanoparticles were evaluated for how well they carried genetic material, how safely they distributed in the body, and whether they could reach the nerve cells where they are needed.
Results showed that the nanoparticles successfully delivered genetic material to peripheral nerve cells with reduced distribution to other organs, suggesting a safer delivery profile compared to viral vectors such as AAV-9. The researchers also tested an alternate nanoparticle design provided through collaboration, which successfully delivered genetic material to nerve cells and confirmed that the therapy was active within nerve tissue.
These findings mark important progress toward developing nanoparticles as a safe and precise delivery system for future genetic therapies in CMTX1. The approach may ultimately benefit other forms of CMT that affect Schwann cells and peripheral myelin, such as CMT1A and CMT1B.
