Highlights in Patient Care and Education and Plans for Upcoming Year
As the year draws to a close, I’d like to highlight significant accomplishments and events in the UAB NF Program during 2017 and provide a preview of plans for the upcoming year in patient care, education, and research. It has been more than a year since the NF Clinic’s relocation to two distinct sites in the UAB Medical Center District as part of a reorganization into adult and pediatric clinics, and the change continues to reap benefits. Patients seem to be pleased with the new facilities and improved logistics, including more convenient parking. The most significant benefit for our patients is the streamlined, integrated care that is provided in the new clinic locations that enable imaging, lab tests, and consultations with a range of specialists to occur in one location. We’re pleased that our patients are benefitting from this new structure and that our hopes seem to have been realized for improved convenience and integration of care.
As part of our ongoing commitment to patient education and support, our program co-sponsored, with the Children’s Tumor Foundation (CTF), another successful NF Symposium at the Children’s Harbor Building at Children’s of Alabama in August. Also known as NF Family Day, this annual event serves as a forum for NF patients and families to hear a series of presentations on a range of NF topics from clinical experts as well as provides a meaningful opportunity for NF families to connect with others sharing the same journey. Our program was also pleased to again support the 4th Annual Alabama NF Walk held last month in Veteran’s Park in Hoover. Held in cities across the nation, the NF Walk is an important fundraising event for the Children’s Tumor Foundation (CTF), the major source of patient advocacy and research support for all forms of NF in both children and adults.
Another highlight for our program this year was our participation in the Rare Disease Genomics Symposium, held in March at UAB, which is an event designed to share information about the role of genomics in the diagnosis and treatment of rare diseases with healthcare practitioners who are non-genetic specialists. While the event was not specific to neurofibromatosis, NF1 is a rare disorder that benefits from diagnostic and therapeutic approaches used in the management of other rare disorders. The Symposium serves as an important forum for increasing awareness of rare disorders and educating faculty and clinicians at UAB and in the community about the role of genomic medicine in the diagnosis and management of rare diseases. This year’s Symposium featured a panel discussion led by parents of children with rare diseases as well as an art exhibit showcasing works that depict people with genetic conditions in a humanistic way. Next year, the Symposium will be a two-day event with the first day designed for professionals and the second day focused on families.
In addition to lending our continued support to the NF Symposium, NF Walk, and Rare Disease Genomics Symposium during the upcoming year, we also plan to increase patient engagement through continuing work begun this year on the development of a smart phone app. This app will allow patients to become more involved in several aspects of their care and enhance their interaction and experience with the clinic.
Re-Cap of 2017 Research Initiatives and a Preview of 2018
The UAB NF Research program has been actively engaged in basic and preclinical research as well as clinical trials focused on identifying and developing effective therapies for people with NF. Our primary research focus is the development of therapeutics targeted at specific mutations. The UAB Medical Genomics Laboratory is a world leader in genetic testing and medical diagnosis of NF, performing the most scientifically reliable, leading-edge genetic testing currently available for the diagnosis and characterization of mutations for NF1, NF2, and schwannomatosis, with the highest volume of NF genetic testing in the world. The Medical Genomics Laboratory is engaged in ongoing efforts to determine correlations between physical manifestations of NF and specific mutations in the NF1 gene. This research could provide a framework for determining the extent to which complications of NF are predictable.
Continuing our efforts in the development of animal models, we have developed several additional mouse models with specific NF mutations, some of which have been identified in our own patients. This offers the possibility of a personalized medicine approach to treatment that will remain an increased area of focus for our program in the upcoming year. These models enable our scientists to study the NF disease process as well as the effectiveness of potential drug treatments. Also in the area of preclinical research, we have developed a method of expressing the NF1 gene in a cellular system. This was accomplished by deleting the normal NF1 genes in these cells and replacing them with a mutated gene, allowing us to investigate the effects of a mutation on cells. A scientific poster summarizing our development of this model won first prize at the annual NF Conference last June. We expect that the model system will yield further information about the NF disease process that will help guide the development of targeted therapeutics.
Additionally, we are conducting a clinical trial targeting cutaneous neurofibromas using the investigational drug called selumetinib. Cutaneous neurofibromas, which are common in adults with NF1, are benign tumors on or in the skin. This trial is actively recruiting study participants, and more information regarding the trial can be found at: www.clinicaltrials.gov (study number NCT02839720).
In support of our continued focus on the development of genome-guided therapies, we have also responded to several RFAs for research funding focused on genome-guided therapeutics with an emphasis on identifying approaches that will allow function to be restored to a non-functional gene or gene product. Our research program was the first to concentrate in this area several years ago, and now this approach is gaining increased attention from others in the scientific community.
Finally, last year we applied for renewal of our Department of Defense grant to fund the NF Clinical Trials Consortium. This grant was approved, and the Consortium is now into its third five-year funding cycle. We are in process of developing multiple new clinical trials for all forms of NF, including NF1, NF2, and schwannomatosis, and expect to be announcing the launch of the first trials very soon in the new year.
In summary, this has been a very busy year in the UAB NF Program, and next year promises to be at least as active. I am grateful to our many supporters, and to the patients and families we serve for their confidence in our care. I wish everyone a very restful and happy holiday season and look forward to reporting on our progress in the New Year!