Birmingham Family Affected by NF Recognized at CTF BeNeFit II Gala in Detroit, and Frequently Asked Patient Questions Regarding NF Clinical Trials
- Published on January 06, 2015
- Written by Bruce Korf
As a new year begins, we at UAB continue our commitment to advancing and facilitating research for all forms of neurofibromatosis. In support of this commitment, UAB serves as the national coordinating center for the NF Clinical Trials Consortium, a collaborative group of 17 medical centers across the country (and one in Australia) dedicated to conducting clinical trials of the most promising drug therapies for all forms of neurofibromatosis. During the NF Clinical Trials Consortium steering committee meeting held last month in Baltimore, discussions were held regarding selection criteria for topics of upcoming clinical trials. Frequently, two specific questions that arise from NF patients regarding clinical trials are: Why are the entry criteria for clinical trials so strict?; and Why aren’t more clinical trials conducted for more features of NF?
Regarding the first question, it is understandable that many NF patients are interested in participating in clinical trials to assist in advancing research and to receive drug therapies that might be beneficial in treating a specific feature of NF. The purpose of a clinical trial is to conduct a test of a specific medication to determine if it has a potential benefit. It’s important to understand that clinical trials must be conducted according to strict protocols, and in the case of new drugs, the trials are monitored by the FDA. Also, data have to be collected with strict adherence to the protocols to ensure that results are valid and usable. If a trial proves to be effective, a specific drug could be made available to a wide number of people, instead of just the few individuals who participated in a specific trial. Strict entry criteria must be maintained to ensure the validity and reliability of the clinical trial, which in the long run benefits the entire NF community. These criteria include: A confirmed diagnosis of NF; the confirmed presence of the NF characteristic(s) being investigated in the trial; and the absence of a prohibitive medical history, such as reduced kidney or liver function or other medical conditions that could compromise the study results or endanger the study participant. Because of these strict entry criteria, some NF patients are not eligible for a certain clinical trial. While this can be disappointing for these patients, it is important to remember that accepting only those patients into the trial who fit the specific criteria ensures the reliability of the trial and safeguards the potential of making a specific beneficial drug available to larger number of NF patients.
Some NF patients find it frustrating that the complications they are experiencing may not be the subject of a clinical trial and often ask how the focus of a clinical trial is determined. This is an important question, and it should be emphasized that we are interested in conducting clinical trials for all forms of NF. Because financial resources for conducting clinical trials are limited, with the minimum average cost of a trial in the hundreds of thousands of dollars, decisions regarding the focus of a clinical trial are made according to specific criteria. We are also mindful of the fact that the NF patient community is relatively small, and we want to make sure that clinical trials are done for the most promising treatments, so that we don’t overwhelm the community with trials that have little chance of working. Generally, features that are potentially life-threatening are given greater priority, such as plexiform neurofibromas and malignancies. The NF Clinical Trials Consortium Steering Committee determines the focus of a clinical trial based on the following criteria: The degree to which a specific feature of NF is problematic or life-threatening; the availability of a drug that might be effective (based on previous animal model studies); and the prevalence and availability of patients with the NF feature. The recommendations of the Steering Committee are then reviewed by an external scientific review panel and also by an external oversight committee appointed by the Department of Defense, which is the sponsor for the Consortium.
In using specific definable criteria for selecting the focus of clinical trials and the participants to whom drug therapies are administered, we’re ensuring that the results of these important studies are valid, reliable, and can ultimately be used to identify the most promising drug therapies for all forms of neurofibromatosis.
- Published on October 20, 2014
- Written by Bruce Korf
In addition to providing patients and families with important information about NF, a primary purpose of this event is to give families an opportunity to meet and interact with one another. Many of these families haven’t previously had the chance to speak with other families affected by NF, and it’s very meaningful for them to be able to talk to and learn from others with similar experiences and challenges. Many NF families attending the Symposium find that having the opportunity to meet other families in our community affected by NF is one of the most helpful aspects of the event. It’s rewarding to know that the annual NF Family Day can help to facilitate these important, supportive connections among NF families.
In early September, two UAB colleagues and I attended the 16th European Neurofibromatosis Meeting in Barcelona, Spain. Held every two years, this meeting assembles more than 100 international clinicians and researchers in the field of neurofibromatosis to present the most current research and clinical advances. Dr. Ludwine Messiaen, director of the UAB Medical Genomics Laboratory, chaired a session at the meeting and presented an overview of her NF-related research involving the pursuit of genotype-phenotype correlations and identification of novel disease-predisposing genes. Visiting UAB professor and clinician Dr. Xioajie Hu from Shanghai, China, also attended. Dr. Hu, a plastic surgeon, has been working with us since April with the goal of establishing an NF clinic and research program upon his return to Shanghai in a few months.
During the meeting, I was honored to chair a session on quality of life issues in NF and to give an overview of our UAB NF research program, including current clinical trials of promising NF medications and the development of mouse models of actual human NF1 mutations with the goal of testing medications that may restore function to the mutated gene or gene product. Overall, the meeting underscored the robust international efforts currently in progress to generate new research initiatives focused on indentifying effective NF treatments. It was encouraging to be a part of this global, collaborative effort that promotes and fosters an exchange of ideas among members of the NF scientific community.
Upcoming NF Family Day, Research Advances, and a Special Award for a Birmingham Family Affected by NF
- Published on September 04, 2014
- Written by Bruce Korf
Neurofibromatosis patients and their family members will have an important opportunity to learn more about NF – including research and clinical care – at the upcoming Neurofibromatosis Symposium to be held at the UAB Hugh Kaul Genetics Building on September 27th. Co-sponsored by UAB and the Children’s Tumor Foundation (CTF), this year’s symposium is entitled “NF Family Day 2014: Learning & Thriving Together.” The focus of this half-day, free event is to provide NF patients and their families with key information in a series of presentations on a range of NF-related topics including: an overview of neurofibromatosis; updates on clinical trials and other research advances; patient advocacy; and a question-and-answer session. Breakfast and lunch will be provided, and those who attend will also have the opportunity to tour two UAB laboratories currently involved in NF-related research. Childcare will be available for the convenience of our families. While there is no cost to attend, reservations should be made by September 25th by emailing email@example.com. We always look forward to this invaluable opportunity to provide information, support, and answers to NF patients and families, especially those who may be facing a new diagnosis.
Our NF research program continues to make significant strides in clinical trials and in the laboratory. UAB serves a dual role both as a member of and the national coordinating center for the NF Clinical Trials Consortium, a collaborative group of 17 medical centers across the country dedicated to conducting clinical trials of the most promising drug therapies for all forms of neurofibromatosis. As a member of the Consortium, we are currently launching two clinical trials to test medications for possible effectiveness in shrinking plexiform neurofibromas, tumors that involve multiple branches of large nerves. These drugs have shown some activity in shrinking plexiform neurofibromas in mouse models, and the hope is that these medications will also be proven effective in human clinical trials. Details can be found on the NF Clinical Trials Consortium website (http://www.uab.edu/nfconsortium/).
In the laboratory, scientists at UAB are continuing to advance research related to the development of mouse models of actual human NF1 mutations in the hope of testing medications that may restore function to the mutated gene or gene product. We have made significant progress in study of a model with a premature stop mutation, a common type of NF1 mutation that leads to a non-functional gene product. This is the first time this specific type of mutation has been studied in a mouse model, and it was chosen by our research team because medications are currently available that can read through a premature stop mutation, restoring function to the gene and allowing the production of some functional protein. In testing such drugs on cells from these mice, we have demonstrated some slight restoration of normal gene function and production of the neurofibromin protein. This is a hopeful sign, and the next phase of the research will be to test the medications on the mice themselves, with the goal of determining whether they slow the growth of neurofibromas in the animals.
To further advance our program’s research goals, we have formed a collaborative partnership with Southern Research Institute, with the objective of screening new medications that may be effective in the treatment of NF. Based on Southern Research Institute’s significant accomplishments in the area of drug discovery, we anticipate this partnership to be productive in helping us to identify new medications that may hold promise as future NF treatments.
I’d like to extend a special note of congratulations to Renie and Philip Moss and their children, Helen and Philip, for being selected to receive the prestigious 2014 Strength and Honor Award at the upcoming NF fundraising event in Detroit, Michigan, in November. This special Birmingham family is being recognized for their integral role in establishing the Alabama chapter of the Children’s Tumor Foundation (CTF) as well as their ongoing leadership of the Alabama CTF and dedication to NF-related education, fundraising, and outreach. This recognition is well-deserved, and we in the Birmingham community are very proud of the Moss family’s tireless mission to raise awareness of NF with the overall goal of helping to fund research aimed at finding effective treatments.
Lastly, the UAB NF Program will soon launch a Facebook page to help patients, families, and others interested in neurofibromatosis stay informed about our program’s activities related to patient care, research, education, and special events. We also look forward to using the new page as a vehicle to communicate with patients and families about important developments in the NF community.