In a jointly-funded project between CMTA and the Muscular Dystrophy Association (MDA), Alexia Kagiava, PhD, and her team at the Cyprus Institute of Neurology and Genetics in Cyprus are pioneering the use of nanoparticles to deliver gene therapies directly to Schwann cells to treat CMTX1 (aka CMTX1, CMTX), the second most common type of CMT. This research focuses on using novel nanoparticles designed to carry therapeutic genes to Schwann cells, which are crucial for producing and maintaining the protective myelin sheath around nerves.

CMTX1 is caused by mutations in the GJB1 gene, leading to defects in the CONNEXIN32 (Cx32) protein, which is crucial for Schwann cells to maintain the protective myelin sheath surrounding nerves. Dr. Kagiava’s team is pioneering nanoparticles designed to deliver therapeutic genes specifically to Schwann cells, offering an encouraging new therapeutic approach.

Research Progress to Date

In the first year of this three-year project, Dr. Kagiava’s team successfully created nanoparticles designed to deliver genetic therapies to peripheral nerves. Early testing in a CMT model has already begun to see how well the nanoparticles spread through the body to reach where they are needed: Schwann cells. This testing will help the team figure out the best way to deliver the treatment in the future.

The next phase involves optimizing nanoparticle size and delivery efficiency to enhance their ability to target Schwann cells and deliver therapeutic DNA. This nanoparticle-based approach could provide a safer alternative to current viral vector-based gene therapies, such as AAV vectors, which pose potential toxicity risks.

Looking Ahead

As the research progresses, Dr. Kagiava’s team will focus on refining the nanoparticles’ design and conducting further tests in a CMTX1 model to assess how well this approach is working. If successful, this nanoparticle gene therapy platform could be expanded to treat other forms of CMT that involve Schwann cells, such as CMT1A and CMT1B, broadening its potential impact.

CMTA’s Commitment to Progress

CMTA’s support of this pioneering research underscores our commitment to developing new therapies for all forms of CMT. The potential of nanoparticle-based gene therapy represents an important step forward in overcoming the challenges of gene delivery to peripheral nerves.

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Published On: October 29, 2024