Research That Advances Neurofibromatosis Care

Great strides in neurofibromatosis (NF) research are being made, and our Center is helping lead the way. Our leadership in national research consortia allows us to offer a number of new therapies for NF patients, malignant peripheral nerve sheath tumors, optic pathway gliomas and plexiform neurofibromas.

Cincinnati Children’s is part of the Children’s Oncology Group, Neurofibromatosis Clinical Research Consortium, Sarcoma Alliance for Research Through Collaboration and Pediatric Brain Tumor Consortium. Our physicians hold leadership positions in many of these groups, helping to shape national clinical trials that will lead to the next generation’s standard of care. We also offer novel treatments discovered in the lab at Cincinnati Children’s.

Promising Laboratory Research

Nancy Ratner, PhD leads the Cincinnati Center for Neurofibromatosis Research. Dr. Ratner is an internationally noted researcher in NF-related tumors. She and other scientists at Cincinnati Children’s conduct laboratory research that leads to the development of Phase 1 clinical trials for NF research.

Dr. Ratner and her team have already made important discoveries that led to the first effective treatment for NF-related plexiform neurofibromas. Researchers in our program are exploiting new understanding of tumor formation discovered in Dr. Ratner’s lab to find novel methods for treating NF1-related tumors.

Clinical Research

Peter de Blank, MD’s research focuses on developing non-invasive techniques to measure and predict the effect brain tumors and their therapies will have on cognitive and functional outcomes (like vision in NF1-associated optic pathway gliomas). He is the principal investigator of numerous multi-institutional studies of radiographic biomarkers in children with brain tumors. Currently, Dr. de Blank leads efforts in developing imaging endpoints for clinical trials of novel therapeutics in pediatric oncology. He currently serves in leadership positions in several national studies of pediatric brain tumors, including as the Vice-Chair of the Collaborative Network for Neuro-oncology Clinical Trials (CONNECT) and Chair of the Diffusion Tensor Imaging Ancillary Study of the NF1 Optic Pathway Glioma Natural History Study.
Trent Hummel, MD has developed a therapeutic protocol with the MEK inhibitor, selumetinib, for NF2-related CNS tumors, based on preclinical data from Dr. Ratner and clinical trials conducted at the Pediatric Brain Tumor Consortium, targeting the MEK/MAP kinase pathway in NF1 and 2 related tumors. Additionally, Dr. Hummel is the principal investigator for a prospective observational study looking at visual outcomes in newly diagnosed optic pathway gliomas in NF1 patients. Drs. Hummel and de Blank are members of the national NF Consortium and developed a protocol utilizing bevacizumab with carboplatin or selumetinib to improve visual outcomes in the NF1 optic pathway glioma population. These protocols reinforce our dedication to improving outcomes in patients with NF1 and NF2 along with fully comprehensive multi-disciplinary clinics for NF1 and and NF2 that occur monthly. Dr. Hummel is also the local principal investigator for an industry sponsored clinical trial utilizing the combination of dabrafenib and trametinib in gliomas with BRAF V600E mutations.
Carlos Prada. MD's research has focused on various areas of NF1, including: clinical trials for natural history and biomarkers of NF1 disease related complications; clinical trials for learning, behavior, and attention in children with NF1; preclinical trials of novel compounds for treatment of various NF1 related complications. Dr. Prada’s lab focuses on understanding metabolic pathway abnormalities secondary to NF1 and development of novel biomarkers for future clinical validation. He is the principal investigator for the RASopathies Biorepository at Cincinnati Children’s, which will foster collaborations between basic scientists and clinical investigators.
Joseph Pressey, MD, the director of the Sarcoma Program, is developing novel therapies for high-risk pediatric and young adult sarcomas, including sarcomas that occur in patients with NF1. Dr. Pressey works closely with multiple consortium to provide curative therapy for patients with these very difficult to treat cancers.
Elizabeth Schorry, MD’s research has focused on various areas of NF, including: social and emotional problems in children with NF1; clinical trials for learning disabilities; bone biology in NF1; Vitamin D in adults with NF1; and pain in adults and children with NF. Dr. Schorry is the principal investigator for an NF Consortium trial of Bone Morphogenetic Protein for children with NF1 and pseudarthrosis (non-healing fracture) of the tibia.
Brian Weiss, MD has been investigating therapies for NF1 since his fellowship. He was involved initially in mouse trials and then ultimately led the first NF Clinical Consortium trial of NF1-associated plexiform neurofibromas. He has since led another trial of the MEK inhibitor PD-0325901 in the NF Clinical Consortium, and has been part of the NCI-POB trial of the MEK inhibitor selumetinib in NF1 patients with large plexiform neurofibromas. Dr. Weiss serves as the Vice-Chair of the NF Clinical Consortium and the Chair of the Plexiform Neurofibroma Committee in the consortium.

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