CHOP and COG Will Validate New Tool to Measure NF1-Related Progressive Vision Loss

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Researchers from Children’s Hospital of Philadelphia (CHOP) and the Children’s Oncology Group (COG) have received funding to launch a clinical study using a new tool to measure vision loss associated with neurofibromatosis type 1 (NF1). The tool, known as optical coherence tomography (OCT), will be used to assess the visual system and its response to treatment in NF1 patients with optic pathway gliomas. The study will be funded by the Gilbert Family Foundation (GFF), a private nonprofit foundation founded by Jennifer and Dan Gilbert to accelerate a cure for NF1.

NF1 is a rare tumor predisposition syndrome, affecting approximately 1 in 3000 people worldwide. The condition involves the proliferation of tumors throughout the central and peripheral nervous system. Approximately 1 in 5 NF1 patients develop a tumor in their visual system called an optic pathway glioma, causing many of them to lose their sight.

Historically, the decision on whether to treat a patient with an NF1 optic pathway glioma has been made based on changes to the patient’s vision. However, this measurement is not always reliable, as it depends on patient cooperation, which can be challenging with younger patients.

To study the effectiveness of OCT in providing more objective, quantitative vision data, Robert A. Avery, DO, a pediatric neuro-ophthalmologist in the Division of Pediatric Ophthalmology at CHOP, and Michael J. Fisher, MD, Chief of the Section of Neuro-Oncology and Director of the Neurofibromatosis Program at CHOP, will lead an ancillary study related to the ongoing COG Phase III randomized clinical trial for selumetinib, a targeted therapy for NF1.

The ancillary study will collect three sets of OCT measurements for 60 NF1 patients with optic pathway gliomas who are enrolled in the Phase III trial: before treatment with selumetinib, after 6 months of treatment, and after 12 months of treatment. Based on that data, they will determine whether OCT measurements can predict how patients will respond to treatment or provide an early indication that a therapy is not working, sparing patients unnecessary treatment.

“Understanding how OCT metrics change during this trial will provide much needed information to understand how they can optimize treatment outcomes and their role in clinical practice,” Avery said. “Depending on the outcomes of the primary study, our OCT results could elucidate important factors about why children’s visual outcomes may differ. This ancillary study would also help us justify OCT’s inclusion as a secondary outcome in future clinical trials.”

Learn more about this study here.

Contact: Jennifer Lee, The Children’s Hospital of Philadelphia, 267-426-6084 or