Funds will support research to identify promising treatments for patients with NF1
Children’s Hospital of Philadelphia (CHOP) today announced that it has received more than $10 million in a series of gifts to fund critical neurofibromatosis research from the Gilbert Family Foundation, a private foundation established by Dan and Jennifer Gilbert to accelerate a cure for neurofibromatosis type 1 (NF1).
NF1 is a genetic disorder that can affect multiple systems of the body and is characterized by symptoms that include skin changes, skeletal abnormalities, and tumors. The tumors that develop in the brain and body can lead to serious complications, including vision loss and severe pain. NF1 occurs in approximately one in 3,000 people and affects males and females of all races equally. Approximately half of the cases are sporadic, but the remaining 50 percent of cases are hereditary. The genes causing the disorder may be passed from generation to generation in a family; however, the type and severity of the disease can vary widely among affected family members.
Funds from the Gilbert Family Foundation will support neurofibromatosis research via CHOP’s Neurofibromatosis Program in a variety of ways, including:
- Studies that develop evidence-based or “standard of care” guidelines for the management of children with NF1-associated brain tumors occurring outside of the visual pathway. Currently, there are no evidence-based guidelines for these patients, and this CHOP-led multi-institutional project will aim to capture data that will help create these guidelines and inform further epidemiological studies.
- Studies to determine clinical and molecular risk factors for the development and outcomes of NF1-related high-grade glioma (HGG), a malignant brain tumor that sometimes develops in NF1 patients, and high-grade astrocytoma with piloid (HGAP), a rare malignant brain tumor. The CHOP-led multi-institutional research will also seek to understand the prevalence of malignant transformation of NF1-associated low-grade glioma (LGG) in adults and evaluate prevalent treatment approaches.
- Research that will lead to the discovery of immunotherapy targets for NF1-associated HGG, which currently lacks effective therapies. Using computational methods and novel approaches, the researchers hope to identify a unique tumor antigen that can be targeted using CAR T-cell therapy.
“Research is an essential component of our Neurofibromatosis Program. Our multidisciplinary team of experts in neuro-oncology, neuro-ophthalmology, neurology, genetics, pediatrics, ophthalmology, orthopedics and other specialties seek to improve the care and outcomes of those with neurofibromatosis,” said Dr. Michael Fisher, Section Chief of Neuro-Oncology and Director of the Neurofibromatosis Program at CHOP. “These grants from the Gilbert Family Foundation will allow us to conduct crucial studies that we hope will eventually lead to better treatments for those with NF1.”
The Gilbert Family Foundation was founded in 2015 to help accelerate a cure for NF1. Nick Gilbert, the oldest son of Dan and Jennifer Gilbert, was diagnosed with NF1 as an infant and continues to battle the disease. To help further research and discovery, the organization launched its Brain Tumor Initiative (BTI) in 2022. This initiative falls in line with their Vision Restoration and Gene Therapy initiatives, which are focused on addressing different NF manifestations and finding an underlying cure for the disease. BTI focuses on identifying and developing therapeutic strategies to effectively treat NF1-associated transformed gliomas. The initiative also aims to conduct studies that provide critical characterization of NF1 transformed gliomas and identify the most promising treatments for patients.
“We are proud of our continued investment in CHOP, one of the premier research institutions in the world and a facility that continues to be on the cutting edge of neurofibromatosis research,” said Laura Grannemann, the Executive Director of the Gilbert Family Foundation. “Through our ongoing collaboration with CHOP’s Neurofibromatosis Program, we are confident that we are closer than ever to finding a cure for NF.”
CHOP has a longstanding research program focused on optic pathway and other low-grade brain tumors and was in the first cohort of research partners to receive funding from BTI. CHOP has received previous investments for its promising research as part of the Gilbert Family Foundation’s Vision Restoration Initiative (VRI).
To find out more information on the work in the space of visit chop.edu/centers-programs/neurofibromatosis-program and research.chop.edu.