Common symptoms of the genetic disorder neurofibromatosis type 1 (NF1), including skeletal fragility and the loss of bone mass, may be treatable with an existing anti-cancer drug, according to a study from researchers at Weill Cornell Medicine. The findings reveal the potential for an expanding array of therapeutic options for patients who have this difficult-to-treat condition.
The study, published Nov. 11 in Nature Communications, uncovered a signaling pathway in bone-making cells that helps drive the skeletal manifestations of NF1, and showed that a drug called ponatinib, which is already in use against certain forms of leukemia, can largely prevent these skeletal manifestations in mice with the disorder.
NF1 currently has almost no drug treatment options, and although doctors are beginning to use drugs called MEK inhibitors to treat the disease, the findings suggest that ponatinib or future novel drugs targeting the newly uncovered pathway may be able to treat NF1 more effectively and safely.
“Ponatinib may have some clinical value here, and we also can start screening for potential new drugs that work even better than ponatinib against this newly discovered pathway,” said senior author Dr. Matthew Greenblatt, an associate professor of pathology and laboratory medicine at Weill Cornell Medicine and a pathologist at NewYork-Presbyterian/Weill Cornell Medical Center.
NF1 afflicts about 1 in every 3,500 people, or roughly 100,000 people in the United States. Signs and symptoms, apart from skeletal manifestations, include tumors—mostly benign—on peripheral nerves, called neurofibromas, and learning difficulties in childhood.