In May, revised diagnostic criteria for NF1 were published in Genetics in Medicine, the journal of the American College of Medical Genetics and Genomics (Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation | Genetics in Medicine (nature.com). The revised criteria are the product of a systematic, multi-year collaborative project of more than 90 NF experts from the international scientific community to arrive at a broad consensus.

We are pleased that in-person visits have resumed in our UAB Adult NF Clinic each Thursday in the Whitaker Building and in our Pediatric NF Clinic on the second and fourth Tuesday of each month at Children’s of Alabama.  To ensure the continued safety of patients and staff, requirements for masking and social distancing remain in place, and each person entering the clinic will also be screened for fever. We also plan to continue utilizing telemedicine visits because of the convenience and improved access this method provides our patients, particularly when reviewing test results or following up after an in-person visit. Because pre-pandemic licensing restrictions have been restored, our telemedicine visits are now limited to patients in Alabama and Florida.

As our UAB NF Clinics resume in-person visits for the first time since the start of the pandemic, this is a good time to address a question that patients frequently ask: How often should an individual with NF be seen in an NF specialty clinic? The answer is that the frequency of clinic visits depends on whether an individual with any of the three forms of NF is experiencing active problems that require frequent follow up. For example, regular clinic visits are part of the treatment plan for individuals taking the medication selumetinib. However, for people with NF who are stable and doing reasonably well, the general recommendation is to be seen by an NF specialist about once a year. While the guidance for an annual clinic visit is somewhat arbitrary, it is straightforward and easy to remember for most people and helps to maintain an active relationship with a care provider, as well as identify potentially treatable complications as early as possible.

In my experience, this guideline is generally well-followed for children with NF but less so for adults. There are several reasons for this, including the fact that parents often prioritize their children’s healthcare over their own. Also, NF can evolve rapidly in childhood, and it’s important for children to be monitored for the development of complications such as optic glioma, scoliosis, bone dysplasia, and plexiform neurofibromas. Another impetus for parents to have children seen annually is that most children are well-covered by eithre private insurance or Medicaid, whereas some adults may not have adequate insurance coverage for annual visits.

Adults with NF who are experiencing few active symptoms may question why it’s necessary to have an annual NF clinic visit. The rationale for yearly clinic visits for adults is that they provide an opportunity to catch the signs of serious complications such as malignant peripheral nerve sheath tumors (MPNSTs) or hypertension that might otherwise go unnoticed until they are advanced. Another reason to consider annual follow-up is to stay up-to-date on new advances in the field. For example, we now have access to clinical trials and even prescription medications, such as selumetinib, that did not exist a few years ago. Also, regular visits provide a way to stay in touch with the medical team so that they are familiar with a person’s history if problems eventually arise.

Because our goal is to help patients to be more proactive about their own care and encourage them to stay in touch with their NF care team, we may consider other options to make this easier for established patients, such as alternating annual in-person visits with telemedicine visits. This option might help ease the time and financial burden for many patients by giving them more flexibility and convenience. If something concerning arises during a telemedicine visit, we can schedule an in-person visit to follow up.

A Final Note

Just as this month’s blog was being completed, new diagnostic critieria for NF1 and Legius syndrome were published.  This is an important advance in clinical care for NF patients.  I will cover this in detail next month.

Before beginning this month’s blog topic about NF issues related to COVID-19, I’d like to mention that our annual UAB NF Symposium Family Day was held on Saturday, March 13, as a virtual event this year. Co-sponsored by the UAB Department of Genetics and Children’s Tumor Foundation (CTF), this half-day, free event typically occurs in the fall each year. While concerns about COVID-19 did not allow the Symposium to be held in person at the usual time of year, we felt it was important to host the event in a virtual format this year to give patients and families the same opportunity to hear a series of presentations on a range of NF-related topics from clinical experts. The event also provides an important way for families to establish a connection with others sharing the same journey, which can be especially meaningful for those who are newly diagnosed.

This year’s Symposium opened with an overview that I provided of NF clinical care and research, now and into the future. Other featured speakers included UAB adult neuro-oncologist Mina Lobbous, MD, who gave a presentation on adult care as well as a clinical trials update, as well as UAB pediatric neuro-oncologist Katie Metrock, MD, who provided a talk on pediatric care and clinical trials research. The event also included a question-and-answer session featuring Dr. Lobbous, Dr. Metrock, and me. I’m pleased to report that we had more than 180 participants at this year’s Symposium, which exceeds typical attendance at the in-person event. A clear benefit of the virtual format is that it allows for greater participation by eliminating the need for participants to travel. Although most attendees in past years have been from our immediate geographical region, this year we had many participants from around the nation and overseas.  It was rewarding that our reach expanded significantly this year due to the virtual format and that we were able to provide NF patients and families with important information from clinical experts.  Based on this experience, we will be exploring the possibility of continuing to have a virtual meeting option for future symposia.



UAB NF Clinic Developments

In news related to the UAB NF Clinic, we are planning to resume in-person appointments in the UAB NF Clinic in May as clinic staff become vaccinated against COVID-19. Even when in-person visits begin, we will continue conducting telemedicine visits indefinitely because of the benefits this format provides to our patients in terms of convenience and improved access in certain instances. During the pandemic, medical licensing restrictions on providing care to patients in other states through telemedicine were loosened, allowing us to serve patients outside of Alabama. Many of these restrictions have been restored, so our ability to offer telemedicine visits to patients outside Alabama is limited, but we expect to continue to offer the option of telemedicine within the state into the future.  It is possible that, in the future, there will be greater access to telemedicine even outside the state.



Considerations for Individuals with NF Related to COVID-19

At the start of the pandemic, we discussed the question of whether people with NF are at greater risk of complications from COVID-19. As explained at that time, there is no evidence of immune dysfunction in people with NF that puts them at greater risk of complications from the novel coronavirus. However, individuals with NF who have specific medical problems with lung involvement might be at greater risk of complications of COVID-19 illness, including people with large plexiform neurofibromas in the chest cavity, chronic lung disease, or severe scoliosis, all of which can impair lung function.

Many NF patients are also understandably concerned about whether there is any safety risk of the vaccine for people with NF; fortunately, we have no evidence of specific safety concerns related to the COVID-19 vaccine in people with NF.  Those who are on treatments that would depress the immune system, such as chemotherapy for a malignant tumor, should discuss the safety and efficacy of vaccination with their health provider.  Lastly, some people are concerned about whether the Pfizer and Moderna vaccines, both of which are mRNA-based vaccines, can interact with the NF1 gene or its mRNA transcript. Messenger RNA (mRNA) is the RNA copy of a specific gene that is the code used to make a protein.  In the case of NF1 the protein is neurofibromin, for NF2 it is called merlin; for the vaccine, it is a protein that is unique to the virus.  It is important to understand that these mRNAs have nothing to do with one another and do not interact with one another.  Hence, there is no danger that the COVID-19 vaccine mRNA will have any adverse effect on the function of the NF1 or NF2 mRNA or the NF1 or NF2 genes.  The vaccines also do not modify the DNA in any way, and therefore do not pose any specific safety risks to persons with any form of NF.