Rebecca Brown, M.D., Ph.D., (left) and Katie Metrock, M.D., lead the Neurofibromatosis and Schwannomatosis Clinic at Children’s of Alabama.
Neurofibromatosis (NF) is a complex genetic disorder of the nervous system, marked by the growth of tumors—malignant and benign—along nerve sheath cells. In addition to tumor growth, it impacts nearly every organ, including the skin, eyes, heart and bones, and it causes neurological symptoms such as ADHD, speech disorders and learning disabilities.
There is no cure, although new treatments are emerging. Thus, it requires intensive management with a multidisciplinary team, which is exactly what the Neurofibromatosis and Schwannomatosis Clinic at Children’s of Alabama and the University of Alabama at Birmingham (UAB) offers.
Neuro-oncologist Rebecca Brown, M.D., Ph.D., directs the adult portion of the clinic, and pediatric neuro-oncologist Katie Metrock, M.D.,directs the pediatric side. The two work closely together, with Brown seeing patients as young as 12 and both teaming up to create a transitional program for children moving into adult care.
“The disease affects every aspect of these patients’ lives,” said Brown, who recently moved to UAB from Mt. Sinai Health System in New York City. “I tell people that I’m the most generalist sub-specialist that exists because NF experts are the only ones who really understand, pay attention to and address all these many aspects.”
“Even though they all have the same diagnosis of NF, every patient is different, and every family is a little different,” Metrock said. “So how do we approach care in a way that makes the most sense for each patient?”
For Brown, that means shifting the adult clinic from one that’s been focused on diagnosis, genetics and disease phenotype to one that can have a greater clinical impact on patients. “My focus is patient forward,” she said. “I’m interested in addressing the problems that patients experience, especially with regard to supportive care—including psychological care and pain management—and delivering the most recent recommendations for tumor surveillance and other health risk factors such as hypercholesterolemia, stroke and heart disease.” She also wants to bring more clinical trials to UAB to “try to push the envelope as far as developing novel therapies for their conditions.”
In addition, she offers a resection clinic to remove cutaneous tumors. After going through special training, she started it for two reasons. “The first is that patients have a difficult time finding a surgical specialist who has the interest and the bandwidth to remove these tumors,” she said. “And second is that the out-of-pocket costs can be prohibitive.” She can remove multiple tumors in a single 90-minute session, reducing both the financial burden and time commitment for patients.
On the pediatric side, non-medical specialists such as social workers, child life specialists and school liaisons provide the holistic level of support children and their families require. “There’s so much that needs to be to be managed outside of our clinic with these children,” Metrock said. “So the social worker and school liaison really help bridge the gaps between school and life.” The clinic also works closely with the Hope and Cope Psychosocial and Education Program to help address neurocognitive and mental health issues.
“We’re very committed to providing care for these patients, not just for their tumors, but for how the disease affects their life outside of our clinic,” Metrock said. “But I always felt we could grow. So I’m very excited that Dr. Brown is here and that we have a new push for what we can do for these families.”
That includes building on the existing multidisciplinary foundation and working on streamlining care for families so they don’t have visit the hospital—which might be hours away from their homes—for multiple appointments.
“They have other children, they have jobs, they have everything outside in life. And so, us asking them to ‘come back, come back,’ can be quite overwhelming,” Metrock said. “So, how can we streamline their care so that they’re getting the best care they can in a way that allows them to keep living their life away from clinic in the hospital?”
That involves bringing more clinicians interested in the condition into the clinic as well as expanding an already robust clinical research program.
Indeed, research is embedded in the mission of the clinic. UAB is the headquarters for the Neurofibromatosis Clinical Trials Consortium (NFCTC), which coordinates research across 24 sites internationally.
Girish Dhall, M.D., who directs the Division of Pediatric Hematology, Oncology and the Blood and Marrow Transplantation Program at Children’s, leads the consortium. Since its inception in 2006, it has grown from nine to 24 sites with more than 72 investigators, according to Karen Cole-Plourde, the NFCTC operations center program director. It has also launched 17 clinical trials involving more than 500 patients, with eight trials currently in development; published more than 19 peer-reviewed papers with five in progress; and landed more than $5 million in funding from pharmaceutical companies, foundations and government sources.
In addition, UAB boasts one of the world’s most robust neurofibromatosis genetic labs, which has identified more than 3,000 NF type 1 mutations.
The research team also played a crucial role in developing selumetinib, the first FDA-approved drug for NF, which blocks the action of an abnormal protein that signals tumors to grow. This can stop or slow tumor growth.
While selumetinib has been a major step forward, more fast-acting targeted therapies are needed, Brown said. “These patients can develop new and enlarging tumors in a relatively short period of time,” she added. “There is very much a need and value in finding medications that can stabilize or shrink those tumors over the long term.”
In the meantime, she and Metrock focus on proactive management. “We’re very proud of what we have here,” she said, “and are very aware of the responsibility we have to move forward for these patients.”