Children’s Hospital of Philadelphia and Stanford University School of Medicine will lead the $5.4 million study ,with patient recruitment beginning in late 2021 or early 2022.
The Gilbert Family Foundation, a private nonprofit established by Jennifer and Dan Gilbert to accelerate a cure for neurofibromatosis type 1 (NF1), today announced funding of a new $5.4 million clinical study.
The study, to be led by investigators at Children’s Hospital of Philadelphia and the Stanford University School of Medicine, aims to understand the mechanisms of vision loss caused by NF1-associated optic pathway gliomas, or NF1-OPGs.
Nearly 20% 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.
In April 2019, the Gilbert Family Foundation launched its Vision Restoration Initiative to fund research focused on developing innovative therapies that either repair or replace damaged visual systems caused by NF1-OPGs.
Jennifer Gilbert, co-founder of the Gilbert Family Foundation, noted that one in five NF1 patients develop OPGs, and many end up with chronic vision loss, a symptom that can have devastating effects on quality of life.
“We are working to put an effective cure for NF1-OPG-related vision loss and blindness within reach,” Gilbert said in a statement. "This study is a major milestone for our Vision Restoration Initiative as we strive to unlock life-changing therapies and support future research.”
Through a combination of established and novel visual function testing methods, this study will define the functional, structural, metabolic and patient-reported components of NF1-OPG-induced vision loss.
Findings are expected to inform the development of future therapies, validate existing models of the disease, and help identify new metrics for evaluating the efficacy of vision restoration treatments, including those developed within the Gilbert Family Foundation’s Vision Restoration Initiative and in both pre-clinical animal models and human clinical trials.
The study, formally titled “Identifying Biomarkers for Visual Restoration Strategies in NF1-OPGs,” will be led by Robert Avery, DO, [ediatric neuro-ophthalmologist at Children’s Hospital of Philadelphia and assistant professor of ophthalmology and Neurology at the Perelman School of Medicine at the University of Pennsylvania, and Jeffrey Goldberg, MD, PhD, professor and chairman of Ophthalmology at Stanford University School of Medicine.
As members of the Vision Restoration Initiative “dream team,” both study leaders not only have extensive experience with the techniques used in the study, but also understand the direct connection to and impact on the strategies being developed within the Vision Restoration Initiative.
“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,” Goldberg said in a statement. “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.”
According to the foundation, this study will last approximately 3 years, with patient recruitment beginning in late 2021 or early 2022.
"As the Vision Restoration Initiative’s first comprehensive human study, this project will provide a new understanding of vision loss from NF1-OPGs,” Avery said in a statement. “We're moving closer to our goal of ultimately preventing and even reversing the lifelong vision loss from these tumors.”