$27 million received to speed new treatments for disabling neurological disorder

The Johns Hopkins University School of Medicine has announced receipt of a five-year, $27 million gift earmarked to fast-track the development of therapies to treat tumors associated with neurofibromatosis type 1 (NF1), a common and often debilitating neurogenetic disorder that causes tumors called plexiform neurofibromas to grow on nerves anywhere in the body.

The gift, from anonymous donors with NF1 in their family, will fund creation of the Neurofibromatosis Therapeutic Acceleration Program (NTAP), which will bring together experts to identify the most promising research leads toward an effective therapy for these tumors. NTAP will be led by Jaishri Blakeley, M.D., an assistant professor of neurology, oncology and neurosurgery at the Johns Hopkins University School of Medicine and the director of the Johns Hopkins Comprehensive Neurofibromatosis Center.

“To date, there is no effective therapy for these tumors and no cure for neurofibromatosis,” Blakeley says. “In recent years, despite roughly a dozen good clinical trials using drugs borrowed from cancer treatments, nothing has worked well, so we must try some new approaches. There is no time to waste.”

NF1, caused by a mutation in a single gene, affects roughly 1 in 3,000 people worldwide. Half of the cases occur in patients without any family history. NF1 can cause blindness, deafness, learning disabilities, bone deformities and cancer.

Plexiform neurofibromas are tumors that grow on the deep nerves throughout the body and are common in patients with NF1. They often wrap themselves throughout the nerves that give rise to them, meaning surgery to completely remove them can be more damaging than the tumors themselves.

Surgery is considered the only available treatment option, but a last-ditch one, used only when the tumors become more disabling than surgery complications would be. Removing tumors when they are small isn’t a good option, Blakeley says, because the surgery carries a risk of permanent nerve damage and the neurofibromas will often grow back anyway. The tumors often begin in childhood and 10 percent of them will eventually become malignant.

Blakeley says she sees her role as a “talent scout” looking for the most promising avenues of research into effective treatments for plexiform neurofibromas. Research grants will be awarded to scientists whose work fits that description, she says, with the first awards announced in December 2012.

The NTAP leadership team and scientific advisory board will devise a list of key scientific questions related to NF1 biology and therapeutics, and fund researchers that they think can most rapidly and effectively answer them. They will focus on facilitating collaborations among scientists from many different fields and institutions, and also among existing organizations dedicated to promoting NF1 research, such as the Children’s Tumor Foundation, the Congressionally Directed Medical Research Programs of the Department of Defense and the National Institutes of Health.

The Johns Hopkins Comprehensive Neurofibromatosis Center currently sees roughly 600 patients with NF1. Much of the care involves managing a patient’s neurological symptoms and figuring out the best time to intervene surgically. Some NF1 tumors are disabling, such as those that grow on nerves in the limbs and become so massive that they restrict function. Others can cause compression of critical structures, such as the spinal cord resulting in potentially deadly complications.

“It’s a very frustrating place to be as a physician, to know your patient’s tumor is going to grow and there’s nothing available to stop it,” Blakeley says. “We are grateful for this very generous gift to push the development of new therapies from a family that really understands the needs of patients.”

Blakeley and her colleagues announced the creation of NTAP at the Children’s Tumor Foundation Annual Meeting, a national symposium, on June 10 in New Orleans.

Source: John Hopkins Medicine