2017 NF Conference in Washington, DC

Last month, nearly a dozen colleagues from UAB attended the 2017 NF Conference in Washington, DC.  This international conference, organized by the Children’s Tumor Foundation, began in the 1980s with the original purpose of promoting the sharing of data to assist in mapping and the ultimate identification of the NF genes.  When these goals were accomplished for NF1 and NF2, the meeting gradually evolved to an annual international research conference. The event now serves as the global flagship scientific forum where more than 300 participants from a range of scientific and clinical backgrounds gather annually to build consensus and foster collaboration for advancing basic, translational, and clinical research focused on improving outcomes for all forms of NF. The four-day conference features a series of poster presentations summarizing research, invited lectures, and platform presentations.  Many of the speakers are from outside the NF field, broadening the scientific input into the study of NF. 

While I’m not certain whether our UAB group was the largest contingent at the meeting, we were certainly among the largest groups in attendance. Several of us from UAB gave talks from the platform and most had poster presentations. A poster developed by Bob Kesterson, PhD, a professor of genetics and research scientist in our program, won the prize for best poster at the conference. Dr. Kesterson’s poster demonstrated how complementary DNA (cDNA) is now being used to provide a tool for assessing whether a mutation affects the function of the NF1 gene.  This approach will be useful in determining whether some variants of unknown significance in the NF1 gene are actually disease-causing.  It will also be used to determine whether skipping some part of the gene that contains a mutation will be tolerated (see last month’s blog on exon skipping).  Dr. Kesterson was invited to give a brief talk on his research, and his award and recognition was an honor for him and our program.  As I discussed in last month’s blog, there is an increasing focus within the NF scientific community on the development of genomic-guided therapies that will restore function to mutated genes. While this approach is already being used to develop potential treatments for other diseases such as cystic fibrosis and muscular dystrophy, it is receiving greater focus and attention from other scientific communities, including NF.  We at UAB are recognized as the pioneering group in genomic-guided therapeutics within the context of NF, and we look forward to continuing our role as a leader in developing initiatives that will advance this promising avenue of potential treatment for NF.

NF Clinical Trials Consortium and Commonly asked Questions

Every six months, the NF Clinical Trials Consortium Steering Committee meets to discuss plans for upcoming clinical trials.  Our most recent meeting was held in December in Baltimore with staff members from the Department of Defense (DoD) in attendance. This was the first steering committee meeting held since we learned of renewed funding, and we are preparing to launch the next round of clinical trials. Persons with NF often inquire about which clinical trials are available and if they can participate.  Sponsored by the US government, the Web site www.clinicaltrials.gov provides information about all clinical trials categorized by condition.  The federal government requires trials to be registered and to include detailed information on the site about eligibility criteria, site location, primary outcome measures, and other information.

In the past, clinical trials were not always forthcoming about outcome information, especially if the trial did not prove to be effective. Now it is mandated that outcome information be posted on the site for trials that have been completed.

We also receive occasional questions regarding the preliminary outcome of a clinical trial that is ongoing. We’re unable to provide any information about the preliminary findings of a clinical trial until the final data have been received. Typically, the investigators are not privy to the data because there is concern about possibly biasing the study. We therefore can’t answer the question of “What are you seeing so far?” A Data Safety Monitoring Board appointed to oversee a trial reviews the data for the ongoing study. In some cases, the trial is so effective that it is discontinued early. In other cases, the board may have data to indicate that the trial is not working or that side effects are too serious, and they will stop the trial.  Another frequent question from patients is whether they can participate in a trial at a distance, or even from outside the country, instead of at the site where the trial is being conducted. Depending on the trial design, sometimes this is possible, though most times challenges exist that may not make it possible. If a medication is part of a trial, it is required that participants receive the medication at the site of the trial. Also, there are often routine screening tests that must be performed on site. Because it is sometimes possible to participate in a clinical trial from another location, it’s best to contact the staff conducting a particular trial to learn about participation requirements.  Contact information is provided on clinicaltrials.gov.