By: Bruce Korf Published Date: Nov 20

This month, our discussion focuses on the clinical management of plexiform neurofibromas in the era of selumetinib, a MEK inhibitor medication that was approved by the FDA in 2020 for the treatment of inoperable plexiform neurofibromas in children with NF1 aged two to 18.

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By: Bruce Korf Published Date: Oct 30

In a recent blog, I discussed the change in nomenclature for the conditions formerly known as Neurofibromatosis type 2 (NF2) and schwannomatosis. This change was based on the results of an international effort, sponsored by the Children’s Tumor Foundation (CTF), to review and update the diagnostic criteria of neurofibromatosis to include the most current research and clinical findings.

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By: Bruce Korf Published Date: Oct 30

I am writing this towards the end of August (2023) and would like to use this occasion to recognize a milestone: the 40th anniversary of my involvement in neurofibromatosis. On August 11, 1983, I sent a memo to staff at Boston Children’s Hospital announcing the formation of a Neurofibromatosis Clinic. In this blog I will reflect on how I got involved in NF and make some points on how things have changed and some of what I’ve learned.

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By: Bruce Korf Published Date: Oct 30 Our discussion this month focuses on the recent change in nomenclature for the conditions formerly known as NF2 and schwannomatosis. The change in naming conventions for these two disorders is the result of an international effort, sponsored by the Children’s Tumor Foundation (CTF), to review and update the diagnostic criteria of neurofibromatosis to include the most current research and clinical findings.

An international committee of NF experts utilized a multi-step process conducted over the past several years to acquire clinical insight for the revised criteria that included the Delphi method, which utilized electronic questionnaires to gather information, as well as face-to-face meetings.
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By: Bruce Korf Published Date: Oct 30 This month, I’d like to discuss the options that are available when an individual has clinical features of any of the three types of NF but genetic testing is negative.

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By: Bruce Korf Published Date: Oct 30

In February, we held our fist multidisciplinary clinic for adult NF patients, which is now happening on a monthly basis.  It is evident that this model of care provides significant benefits for patients who have active problems that require further evaluation and treatment, such as those who have tumors. During these multidisciplinary clinics, I am joined by Vanessa Eulo, MD, medical oncologist and Associate Professor of Medicine in the UAB Division of Hematology and Oncology, and Hari Jeyarajan, MD, Assistant Professor of Medicine in the UAB Department of Otolaryngology. Dr. Eulo evaluates patients with plexiform neurofibromas, some of whom may benefit from the drug selumetinib, as well as patients with MPNSTs (malignant peripheral nerve sheath tumors); Dr. Jeyarajan sees patients with head and neck temporal plexiform neurofibromas who may be candidates for surgical intervention.

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By: Bruce Korf Published Date: Oct 30

The UAB NF Research Program is dedicated to the discovery and development of new, life-changing therapies for people with all forms of NF. To advance this mission, UAB maintains a robust and internationally recognized research program that includes a range of preclinical research and clinical trials for all forms of NF. The primary focus of our program is the development of genome-guided therapeutics with the goal of restoring function to the mutated NF1 gene or gene product. We have been pioneers in this effort for NF1 and have developed resources to enable this research through many funding sources, including the Gilbert Family Foundation, a private foundation established for the purpose of developing effective therapies for NF1.

This month’s blog features insight from two genetic scientists collaborating on preclinical research projects focused on genome-guided therapeutics. Deeann Wallis, Ph.D., UAB Associate Professor of Genetics, and Robert Kesterson, Ph.D., Professor of Cancer Precision Medicine and Director of Genetically Engineered Models facility at the Pennington Biomedical Research Center at Louisiana State University (and formerly Professor of Genetics, UAB), give an overview of promising preclinical research initiatives and discuss the strengths of the UAB NF Program in accelerating the development of genome-guided therapeutics with the potential to transform the treatment landscape for NF.

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By: Bruce Korf Published Date: Oct 30

The identification of genes associated with NF1, NF2, and some forms of schwannomatosis has opened new opportunities for testing medications that may be effective in preventing or treating complications of neurofibromatosis. As an international leader in advancing neurofibromatosis research, UAB serves as the coordinating center for the NF Clinical Trials Consortium, an innovative research initiative committed to transforming the NF therapeutic landscape.

This collaborative group of 15 primary and 10 affiliate clinical centers across the country and in Australia is dedicated to conducting clinical trials of the most promising drug therapies for all forms of neurofibromatosis. Established in 2006, the Consortium is funded by the Department of Defense (DoD) through the Neurofibromatosis Research Program (NFRP), one of the Congressionally Directed Medical Research Programs. Following a recent successful renewal application, the Consortium is now funded by the DoD for the next 10 years.

The Consortium partners with well-established NF Centers that pool expertise and resources to accelerate the pace of research by providing opportunities for patients to participate in clinical trials at sites around the country and in Australia. I serve as the Principal Investigator of the Consortium and lead the Operations Center based at UAB; Children’s of Alabama Division Director of Pediatric Hematology and Oncology Girish Dhall, MD, serves as Deputy Director of the Operations Center.

This month’s blog features insight from members the NF Clinical Trials Consortium Operations Center administrative team, which is based at UAB, including: Program Director Karen Cole-Plourde, BS; Clinical Research Nurse Manager Lynn Merritt, RN; and Research Compliance Manager Juliette Southworth, BS, CCRP. These dedicated professionals explain their roles and share observations about the impact of the NF Clinical Trials Consortium in accelerating the pace of NF research and providing meaningful opportunities for patients across the country and internationally to participate in clinical trials of promising new therapies.

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By: Bruce Korf Published Date: Oct 30

The UAB Medical Genomics Laboratory serves an integral role in supporting patient care and advancing neurofibromatosis research. Viewed in the medical and scientific communities as the gold standard for NF genetic testing, the laboratory offers clinical genetic testing for all forms of neurofibromatosis, including NF1, NF2, Schwannomatosis, as well as Legius syndrome and other Rasopathies. Based on more than 15 years of experience, the Medical Genomics Laboratory has identified mutations in more than 8,000 unrelated patients and has identified more than 3,000 NF1 mutations, representing the world’s largest database repository of NF mutations. This month’s blog features insights from the Director of the UAB Medical Genomics Laboratory Yulong Fu, PhD, FACMG, and Laboratory Genetic Counselor Bryce Brown, MS, LGC. Dr. Fu and Mrs. Brown discuss how the laboratory’s unique testing capabilities, advanced technologies, and distinctive expertise support patients, physicians, and research scientists by providing information about NF variants that may be otherwise unavailable.

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By: Bruce Korf Published Date: Oct 30

The UAB Neurofibromatosis Clinic provides comprehensive, integrated care to adult and pediatric patients with all forms of NF, including NF1, NF2, and schwannomatosis. Because pediatric patients frequently have health concerns that are different from those of adult patients, we provide a dedicated pediatric NF clinic that delivers specialized care for pediatric patients from a multidisciplinary team of specialists who collaborate in the treatment and management of NF and its complications. This month’s blog features insight from two physicians who provide care to pediatric NF patients.

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