Charcot-Marie-Tooth (CMT) disease is a common inherited condition that causes progressive muscle weakness, loss of sensation, and disability. CMT disease type 2D, one of the most severe forms of the disease, is caused by mutations that result in dysfunctional glycyl-tRNA synthetase. Millions of CMT patients worldwide currently face limited treatment options that only manage symptoms rather than addressing the underlying causes.
Our project at Radboud University aims to develop a novel gene therapy that directly targets the root cause of CMT2D. By using a specially engineered viral vector to deliver glycyl-tRNA, we seek to restore normal nerve function and improve patient outcomes. This innovative approach stands out because it not only stops the disease from worsening but also has the potential to reverse some of its debilitating effects.
Within this Level 1 project, our team will investigate the efficacy of our novel therapy in symptomatic animal models as well as determine the optimal AAV serotype for efficient tissue-specific transduction.
Ultimately, our work could reduce the long-term healthcare burden and improve independence for patients with CMT2D and related neuromuscular conditions, offering hope where current therapies fall short.
