MAY 25, 2020 6:07 AM PDT

FDA Approves the First Treatment for Neurofibromatosis 1

WRITTEN BY: Carmen Leitch

In a major breakthrough, the Food and Drug Administration (FDA) has approved a treatment for a genetic disorder called neurofibromatosis type one (NF1). The disease impacts more than 2.5 million people and can cause a type of tumor growth on nerves called plexiform neurofibromas, which can be debilitating and painful. The drug, Koselugo (selumetinib) is the first treatment for NF1, and is intended for use in patients who have been tested for the disease at the National Cancer Institute (NCI), a part of the National Institutes of Health (NIH).

Clinical trials that assessed the efficacy of the drug showed that in more than 70 percent of patients with inoperable plexiform neurofibromas, Koselugo reduced tumor size by 20 to 60 percent. There was a visual reduction in tumor size, and pain was lessened in patients, who also reported greater mobility, better physical function, and improved quality of life.

The drug is an MEK inhibitor; it targets a biochemical signaling pathway in cells called Ras/Raf/MEK/ERK, which is involved in the survival and growth of cells. MEK inhibitors have been studied as potential cancer therapeutics, and it was found that they could dramatically affect the size of NF1 tumors. The first encouraging results were reported by Dr. Brigitte Widemann at a 2015 NF Conference. Additional confirmatory studies have followed.  

On a personal note, I'm thrilled to learn of this development, though it's bittersweet. My mother had NF1 and died several years ago. It's heartening, however, to hear that patients have been updated throughout the course of these clinical trials. Science and medicine have come a long way since my mother's diagnosis, when very little was known about the disease, and she was diagnosed and quickly dismissed from a doctor's office. While the hereditary nature of NF was known in the medical community by 1900, diagnostic criteria weren't set by the NIH until 1988, and the NF1 gene was not identified until 1990. By 2019, patients were being included in the FDA's first 'NF listening session.'

There are other MEK inhibitors in clinical trials now (like mirdametinib by SpringWorks Therapeutics), so patients might have more treatment options in the near future.

Image credit: Public Domain Pictures / George Hodan

"We are so excited for the entire NF community today! This announcement from the FDA about Koselugo (selumetinib) is a tremendous step towards our ultimate dream - approved treatments for all forms of neurofibromatosis," said Annette Bakker, PhD, President of the Children's Tumor Foundation. "We believe that FDA approval of this treatment helps not only a subset of NF1 patients, it opens the door to increased interest in all forms of NF by pharmaceutical companies. We are already experiencing it; the number of companies interested in NF1, NF2, and schwannomatosis is growing rapidly."

Sources: AAAS/Eurekalert! via Children's Tumor Foundation, FDA

About the Author
  • Experienced research scientist and technical expert with authorships on over 30 peer-reviewed publications, traveler to over 70 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
You May Also Like
MAY 21, 2021
Microbiology
The Bubonic Plague May Have Had a Lasting Impact on Humans
MAY 21, 2021
The Bubonic Plague May Have Had a Lasting Impact on Humans
The bubonic plague is caused by a bacterium, Yersinia pestis, which is transmitted by fleas. The bacterium can also caus ...
JUN 01, 2021
Genetics & Genomics
Sequencing and Identifying SARS-CoV-2 Variants Efficiently
JUN 01, 2021
Sequencing and Identifying SARS-CoV-2 Variants Efficiently
  Viral surveillance can give researchers vital information about virus origins, transmission routes, affected popu ...
JUN 23, 2021
Genetics & Genomics
Expansive RNA Atlas Includes Coding & Non-Coding Molecules
JUN 23, 2021
Expansive RNA Atlas Includes Coding & Non-Coding Molecules
We'e sequenced the human genome, even the parts that are highly repetitive, don't code for protein, and are extremely ch ...
JUN 30, 2021
Genetics & Genomics
A New Kind of Regulatory Element in the Genome
JUN 30, 2021
A New Kind of Regulatory Element in the Genome
The common, two-stranded helical structure of DNA was discovered over one hundred years ago. Many researchers would go o ...
JUL 29, 2021
Earth & The Environment
US Cattle Lose Genetic Adaptations to Environment
JUL 29, 2021
US Cattle Lose Genetic Adaptations to Environment
Cattle are losing important genetic adaptations to their environment due to a lack of genetic information available to f ...
AUG 04, 2021
Genetics & Genomics
Variants May Predict Which Young People Are at Risk for Severe COVID-19
AUG 04, 2021
Variants May Predict Which Young People Are at Risk for Severe COVID-19
While people carry mostly the same genes, there are many small changes in the sequences of those genes, and small variat ...
Loading Comments...