The Gilbert Family Foundation has announced a $5.4 million commitment in support of a clinical study aimed at accelerating the development of a cure for neurofibromatosis type 1 (NF1).

To be led by investigators at Children's Hospital of Philadelphia and the Stanford University School of Medicine, the three-year study will examine the mechanisms of vision loss caused by NF1-associated optic pathway gliomas (NF1-OPG). Nearly 20 percent of children with NF1 will develop an OPG, a tumor located along the visual pathway, which can cause permanent vision loss ranging from mild deficit to complete blindness. The study will define the functional, structural, metabolic, and patient-reported components of NF1-OPG-induced vision loss — which, in turn, are expected to inform the development of future therapies and validate existing models of the disease. The findings also will help identify new metrics for evaluating the efficacy of vision restoration treatments, including those developed through the foundation's Vision Restoration Initiative — launched in April 2019 to fund research focused on developing innovative therapies that either repair or replace damaged visual systems caused by NF1-OPGs — and in both pre-clinical animal models and human clinical trials.

"Our data on variance and test-retest reliability will be critical to powering endpoint analyses in early-phase clinical trials for new candidate therapies for NF1-OPG vision neuroprotection and restoration anticipated in the coming years," said Stanford Medicine professor and Ophthalmology Department chair Jeffrey L. Goldberg, who will co-lead the study with Robert Avery, a pediatric neuro-ophthalmologist at CHOP and assistant professor of ophthalmology and neurology at the Perelman School of Medicine at the University of Pennsylvania. "Our novel and broad approach should identify biomarkers that are relevant in humans and can subsequently drive animal testing by using those biomarkers in pre-clinical therapeutic studies."

(Image credit: Gilbert Family Foundation)