Key Findings of the Study:
· Improved delivery to the brain: Researchers were able to deliver the MLC1 gene to the brain using an AAV vector that was able to cross the blood-brain barrier and distribute throughout the entire brain.
· Reduction of brain swelling: In MLC, excess fluid builds up in the brain’s white matter, where myelin – the protective coating around neurons – is located. This swelling can disrupt normal brain function. In this study, gene therapy helped reduce the fluid buildup in treated mice.
· Improved movement and coordination: Mice that received the therapy were able to move more easily and perform better on tests measuring balance and motor skills.
· Lasting effects: Importantly, after one year, the mice were still showing the benefits of the treatment, suggesting that a single treatment could have long-term benefits.
Overall, these findings are very promising. Further safety studies will be needed before clinical trials in humans can take place. However, the results demonstrate that restoring MLC1 function in the brain can reverse key disease features even in older mice, which provides a strong foundation for gene therapy treatment in MLC.
This progress also highlights the need for clinical trial readiness, including the development of a patient registry and natural history study. As preclinical therapies are progressing quickly, it is essential to ensure that the MLC community is prepared for potential clinical trials.
You can read the entire research article published in Molecular Therapy here.