Team NF Makes Strides in Integrating Research and Clinical Care
Team NF is a new clinical practice model developed by the Neurofibromatosis Center at Washington University and St. Louis Children’s Hospital to accomplish one goal: facilitate the delivery of individualized and effective therapies for children and adults with Neurofibromatosis type 1 (NF1).
NF1 is a common genetic condition that can affect almost every organ system, causing a predisposition for tumors to grow on nerves in the brain and throughout the body. In addition, children with NF1 are prone to a wide variety of clinical problems, ranging from learning and attention deficits to bone and heart defects. Typically, NF1 is suspected when multiple birthmarks are found on an infant or young child.
“Providing personalized successful treatments for children with NF1 requires a thorough understanding of NF1, which can only be accomplished through both basic science and clinical research,” says David H. Gutmann, MD, PhD, the Donald O. Schnuck Family Professor of Neurology and director of the Washington University NF Center. “Team NF fully integrates research and clinical practice so that the questions we ask in the laboratory are the ones that need to be answered in order to improve patient care.”
Families of patients with NF are integral to the success of the NF Center. Their participation in clinical studies has generated a number of actionable observations. Over the past couple of years, researchers in Team NF have translated these findings into more accurate diagnoses and more personalized medical treatments.
“We have proven that anecdotal information dating back 30 years regarding the number of birthmarks required to establish the diagnosis of NF1 in children is actually true,” says Dr. Gutmann. “Kara Nunley, MD, dermatologist, working with Anne C. Albers, PNP, Team NF nurse practitioner, showed that the number and shape of the birthmarks in children can be used to predict who is most likely to develop NF1 later in childhood.”
Similarly, Abby Hollander, MD, pediatric endocrinologist, spearheaded a recent study to determine the reasons for short stature in children with NF1. Based on data collected on NF Center families by Vicki Kuchnicki, NF patient care coordinator, Team NF has developed a more accurate algorithm for identifying children with NF1 and short stature who have an underlying growth hormone deficiency. This has allowed the team to find those children most likely to benefit from hormone replacement.
Another clinical study, led by Courtney Dunn, DPT, from physical therapy, also has significantly influenced patient care. “We asked our families to fill out a short questionnaire and have their young children assessed for development delays. To our surprise, we found that as many as 70 percent of our pediatric NF1 population has significant developmental delays that require therapy services,” says Dr. Gutmann. “This is something we had not fully appreciated before, and it has prompted us to begin developing strategies to address these developmental delays.”
Based on these research observations, and with support from the St. Louis Children’s Hospital Foundation, Dr. Dunn and her colleague, Amy Westfall, ODT, OTR/L, created “Club NF,” a quarterly, family-focused educational program for children with NF1. The goal of this program is to teach patients and their families how engaging in everyday activities can have therapeutic benefits. During the first session in May, children learned how to play chess, a game that involves attention and planning strategies. Upcoming sessions will focus on swimming to improve gross motor strength and handwriting to help children with their fine motor skills (http://www.nfcenter.wustl.edu/for-our-families/club-nf/). Club NF activities are organized by Taylor Ferguson, Team NF coordinator.
“What has emerged from these and other clinical studies in the NF Center is the realization that we need to systematically collect information from our NF families. We have a terrific opportunity to determine whether specific features of NF1 predict what other problems might develop,” says Dr. Gutmann. “We also might learn whether there are genetic factors aside from having a mutation in the NF1 gene that dictate whether a child will develop a brain tumor or some other problem in NF1.”
Two new Team NF projects were specifically designed to gather that vital information. During his tenure as a Doris Duke Charitable Foundation fellow at Washington University, Ibrahim Hussain developed the Internet-based NF1 Patient Registry Initiative to collect medical information to help physicians and researchers better understand the broad spectrum of medical problems found in children and adults with NF1. Kimberly Johnson, PhD, in collaboration with Team NF researchers plans to look for correlations between NF1 and cancer, heart problems, allergies, depression and learning disabilities. Any individual with NF1 worldwide is eligible to complete the on-line questionnaire.
Hussain also worked with Mark Watson, MD, PhD, to create the NF1 Genome Project (http://www.nfcenter.wustl.edu/research/dna-bank/), a unique initiative to collect blood samples from individuals with NF1, from which DNA will be extracted and linked to clinical information from that person. As a result of advancing technologies in the field of genome science, scientists and physicians at the NF Center have begun to work with Elaine Mardis, PhD, co-director of the Genome Institute at Washington University to determine how subtle changes in DNA lead to the wide variety of medical problems seen in people with NF1.Knowledge gained from these studies will help doctors and scientists better predict who will manifest these problems, and it may lead to the design of more effective drug therapies.
“These are projects we couldn’t even imagine five years ago,” says Dr. Gutmann. “Extensive use of the Internet by people throughout the world means our registry is widely accessible. In fact, we already have international registrants from Canada and India. Whole genome sequencing is rapidly becoming affordable, enabling the kinds of studies we propose to perform on specific conditions, like NF1. We believe that the combination of epidemiologic and genetic studies will be transformative for the NF research and clinical communities.”
He adds, “We live in an exciting period when all the stars are aligning for Team NF and for our families. With outstanding faculty committed to NF research, dedicated NF clinicians, and ever-advancing technologies, we are now uniquely positioned to explore novel research avenues with great potential to revolutionize the way we care for individuals and their families with NF. We strive to make the NF Clinical Program at St. Louis Children’s Hospital a destination center for people with NF.”
To refer a patient to the NF Center, call Children's Direct at 800.678.HELP (4357).
