New Advances in Neurofibromatosis Treatment and Research
Neurofibromatosis is a genetic disorder that causes tumors to grow in the nervous system. Recently, there have been significant advancements in research and treatments to help those affected by this condition.
One such advancement occurred in China, where Koselugo (selumetinib) has been approved for the treatment of symptomatic, inoperable plexiform neurofibromas (PN) in pediatric patients with neurofibromatosis type 1 (Mirage News, 9 hours ago). This marks a significant step in providing better treatment options for young patients suffering from this rare genetic disorder.
In the United States, the University of Alabama at Birmingham (UAB) led Neurofibromatosis Clinical Trials Consortium has received funding for ten more years (UAB, Feb 23, 2023). This consortium, which began in 2006, has grown to 24 clinical sites and has conducted 18 clinical trials aimed at finding better treatments and therapies for those affected by neurofibromatosis. This ongoing support will ensure that researchers can continue to make great strides in their work.
New research has also led to more options for people with neurofibromatosis type 1, such as Deniro Bruno, who was born with several tan birthmarks known as “café au lait” spots (Brain and Life Magazine, Feb 2, 2023). As a result of these new developments, patients like Bruno now have better options for managing their condition.
Neurofibromatosis 1 (NF1) is caused by a defect in one of the genes on chromosome 17, which produces the protein neurofibromin that helps regulate nerve cell function (MetroWest Daily News, 2 weeks ago). People with NF1 are at a greater risk of developing multiple benign and malignant tumors due to this genetic mutation (Medical Xpress, Jan 4, 2023).
Earlier detection of malignancy in patients with NF1 has become a priority for medical professionals in order to offer better options for treatment and care (Medical Xpress, Jan 4, 2023). In one inspiring story, a young girl named Penny Doerge, who was diagnosed with neurofibromatosis at an early age, became a source of inspiration for others facing similar challenges (CBS News, Dec 15, 2022).
The University of Arkansas for Medical Sciences (UAMS) opened the country’s first adult neurofibromatosis clinic in Little Rock, fully dedicated to the care of adults with neurofibromatosis (KARK, Nov 30, 2022). This specialized clinic is an important step in providing comprehensive care to patients with NF as they transition into adulthood.
In June 2022, researchers discovered that in the NF1 cancer predisposition syndrome, hyperactive neurons drive tumor growth (SciTechDaily, Jun 21, 2022). This important discovery can lead to the development of new drugs and therapies to stop tumor growth in patients with this syndrome.
As research and treatment options continue to advance, those affected by neurofibromatosis can be hopeful for a future with better care and management options. Through the dedication of researchers, medical professionals, and advocates, the lives of patients with this genetic disorder can be significantly improved.
