The Neurofibromatosis Therapeutic Acceleration Program (NTAP) at the Johns Hopkins University School of Medicine is proud to announce that Dr. Nicole Brossier, Dr. Suganth Suppiah, and Dr. Harish Vasudevan have been selected as the 2021 recipients of the Francis S. Collins Scholars Program in Neurofibromatosis Clinical and Translational Research. They will be joining other exceptional […]

For Immediate Release: April 10, 2020 Today, the U.S. Food and Drug Administration approved Koselugo (selumetinib) for the treatment of pediatric patients, 2 years of age and older, with neurofibromatosis type 1 (NF1), a genetic disorder of the nervous system causing tumors to grow on nerves. Koselugo is the first drug approved by the FDA […]

On April 1, 2019, AstraZeneca (the maker of selumetinib) announced that the US Food and Drug Administration (FDA) granted Breakthrough Therapy Designation (BTD) for the MEK 1/2 inhibitor selumetinib for the treatment of paediatric patients aged three years and older with neurofibromatosis type 1 (NF1) symptomatic and/or progressive, inoperable plexiform neurofibromas (PN).  BTD is designed to expedite […]

N Engl J Med 2020; 382:1430-1442 DOI: 10.1056/NEJMoa1912735 List of authors. Andrea M. Gross, M.D., Pamela L. Wolters, Ph.D., Eva Dombi, M.D., Andrea Baldwin, P.N.P., Patricia Whitcomb, R.N., Michael J. Fisher, M.D., Brian Weiss, M.D., AeRang Kim, M.D., Ph.D., Miriam Bornhorst, M.D., Amish C. Shah, M.D., Ph.D., Staci Martin, Ph.D., Marie C. Roderick, Psy.D., Abstract […]

A young patient with NF1 who was treated at NCI gathers with her mother and members of NCI’s Pediatric Oncology Branch. Credit: National Institutes of Health Over 30 years of NCI-led and NCI-supported research culminated in clinical trials of selumetinib for kids with neurofibromatosis type 1 (NF1) and associated tumors called plexiform neurofibromas (PNs). With […]

News Release Regulatory News Service 13 April 2020 07:00 BST First medicine approved to treat this rare and debilitating genetic condition AstraZeneca and MSD Inc., Kenilworth, N.J., US (MSD: known as Merck & Co., Inc. inside the US and Canada) today announced that the US Food and Drug Administration (FDA) has approved the kinase inhibitor […]

NCI Press Release, Posted: March 18, 2020, Contact: NCI Press Office  240-760-6600 Dr. Brigitte Widemann with Travis Carpenter, who received selumetinib for NF1 at NIH. Credit: National Cancer Institute Findings from a phase 2 clinical trial show that the drug selumetinib improves outcomes for children with the genetic disorder neurofibromatosis type 1 (NF1). In the trial, selumetinib […]

Patient derived tissues are a critical tool to support the ongoing research that improves our understanding of disease formation mechanisms, and helps drive the discovery of new therapeutics.  As part of its commitment to providing research tools to help investigators, the Neurofibromatosis Therapy Acceleration Program (NTAP) (www.n-tap.org) at the Johns Hopkins University School of Medicine […]

Induced pluripotent stem cells have been generated for the first time from tumor cells in order to study therapies for tumors developed in patients with hereditary diseases with predisposition to cancer  The study focuses on characterizing induced pluripotent stem cells (iPSCs) from benign tumors, characteristic of Neurofibromatosis type 1 (NF1) The iPSCs are able to […]

Neurofibromas are tumors of the peripheral nerves that are found most commonly in people with neurofibromatosis type I (NF1), a neurogenetic disease with an estimated birth incidence of 1/2500-3000.  A type of neurofibroma called a plexiform neurofibroma (pNF) affects up to 50% of people with NF1.  These tumors can cause weakness, sensory changes, deformity, pain […]