Approximately one in every five NF1 patients develops optic pathway gliomas (OPGs), tumors on nerves that connect the eyes to the brain. Over time, the affected nerves degenerate and many patients ultimately lose their vision. Today, there are no therapies to reverse this nerve damage and restore vision in NF1 patients with OPGs.
The Gilbert Family Foundation’s Vision Restoration Initiative (VRI) is dedicated to solving this unmet clinical need. Twelve world-class NF1, ophthalmology, and neuroscience experts are collaborating as part of a scientific Dream Team to develop first-in-kind therapies to restore sight to NF1 patients.
In particular, the VRI Dream Team is developing three types of products:
NF1 OPG patients who have less severe tumors or who are earlier in their disease have remaining parts of the optic nerves and the cells that make up the nerves (RGCs) that could be rescued from further damage. VRI researchers are testing and developing therapies that would not only protect these injured RGCs, but boost their vitality and performance, which would in turn result in enhanced vision for NF1 OPG patients treated with these therapies.
Researchers are also developing strategies to enable the remaining RGCs to further overcome their OPG-inflicted damage by re-growing their axons to the brain. In theory, if a sufficient number of a patient’s remaining RGCs regenerate their axons to his brain, he would regain a much more significant amount of vision..
Exogeneous RGC Replacement Therapy
NF1 OPG patients with severe, irreversible vision loss have an insufficient number of viable RGCs to treat in order to recover a meaningful amount of vision. For these patients, VRI researchers are developing a solution that entails generating new, healthy RGCs in the laboratory and transplanting them into the patients’ eyes. After being transplanted into the eye, the new RGCs would then be instructed to regenerate their axons to the brain. A successful therapy would optimize these steps, sufficiently reconnect a patient’s eyes to the brain, and result in significant vision restoration.
Endogenous RGC Replacement Therapy
This type of therapy is similar to the aforementioned exogenous RGC replacement approach. However, instead of generating new RGCs in the laboratory, VRI researchers are identifying strategies to stimulate cells that exist in the patient’s eye to transform into new RGCs. Then, if a sufficient number of the new RGCs regenerate their axons to the patient’s brain, he could, in theory, regain a much more significant amount of vision.