Neurofibromatosis Type 1: Treatment

00:01 What can we do to treat some of these symptoms? And specifically the tumors, how do we treat the tumors? Well, until about this year or 2020, there was no treatment to slow the growth or treat growing tumors in patients with NF1.

00:17 We've researched treatments for a long time and I've looked at those pathways that are involved in the development of NF1.

00:24 And one of the proteins that's a downstream protein that's increased when in patients who have loss of the NF1 gene and protein is MEK.

00:33 Selumetnib is a MEK inhibitor. It reduces circulating MEK.

00:37 It returns the cells back to that normal state of regulated cell growth.

00:42 And in the last decade, in the last few years, we've seen that Selumetinib is an excellent agent for patients with NF1.

00:49 Patients treated with this agent to have growing plexiform neurofibromas about 70% will have a radiographic response or a shrinkage in their tumor.

00:59 And you can see that here in the MRI on the right hand side.

01:02 Prior to treatment, this patient had a large facial plexiform neurofibroma and you can see the thickness of the nasal bridge that's actually limiting this patient's ability to see.

01:12 After nine months or 12 months of treatment we see in the post-treatment image at the bottom that the nasal bridge has shrunk, the tumor has come down in size, and the patient's vision has improved as a result of shrinking that tumor.

01:24 And this has really revolutionized how we treat the plexiform neurofibromas and NF1.

01:29 Other symptoms we don't have a treatment for, and need other investigators to sort through new treatments as we move forward with patients with this condition.