Decreasing the Impact of Neurofibromatosis on Patients Lives

Dr. Naba Bora, program manager of the Congressionally Directed Medical Research Programs Neurofibromatosis Research Program. (Photo by Erin Bolling, CDMRP Public Affairs)

In 1882, Friedrich Daniel Von Recklinghausen first described Neurofibromatosis as a genetic disease characterized by tumors on the skin, sometimes referred to as "von Recklinghausen syndrome." Some of the oldest cases of Neurofibromatosis appeared in 13th century literature.

The Neurofibromatosis Research Program was established under the Congressionally Directed Medical Research Programs in 1996 to provide funding for research that will decrease the clinical impact of Neurofibromatosis on patients lives. Neurofibromatosis, or NF, is an incredibly complex disorder, so Dr. Naba Bora, the CDMRP program manager for the NFRP, was able to answer some questions to provide a basic understanding of the disease and the NFRP efforts.

What is Neurofibromatosis?

NB: NF is actually a group of three different genetic disorders which cause tumors to grow in the nervous system and can also result in many other manifestations. There are three different types of NF: Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis, each presenting with a wide range of manifestations and complications.

What are the differences between the three types of NF?

NB: Neurofibromatosis 1, also known as Peripheral NF, is the most common of the three and is caused by a mutation in the neurofibromin gene. Characteristics such as café au lait spots, which are light brown spots on the skin, can be seen early in children; and benign tumors called neurofibromas can form throughout the nervous system, but are most prominent on the skin. In addition to these tumors, NF1 can cause visual impairment and learning disabilities. Some tumors can become cancerous.

Neurofibromatosis 2 is less common, but also causes tumors, most of which are benign, called vestibular schwannomas in the inner ear leading to hearing loss. Caused by mutation of the Merlin gene, this form of NF also results in other tumors in the brain and spinal cord, cause cataracts and many other complications.

Schwannomatosis is the rarest type of NF, but also results in tumors, called schwannomas, which grow mainly on spinal and peripheral nerves throughout the body. The most common problem people with schwannomatosis report is chronic pain that can occur anywhere in the body.

How common is NF?

NB: Although NF is considered a rare disorder, it is actually more common than Cystic Fibrosis, hereditary Muscular Dystrophy, Huntingtons disease and Tay Sachs combined. Many people have heard about some of these others disorders but have never heard of NF. It is estimated that 100,000 Americans have an NF disorder, which occurs in both sexes and in all races and ethnic groups. NF1 affects 1 in 3,500 people worldwide; NF2 affects 1 in 25,000; and schwannomatosis is much rarer, affecting 1 in 40,000. Half of those with NF1 or NF2 have inherited it from a parent who also had NF, but the other half acquire the disease as a result of random mutation of the gene. The majority of people with schwannomatosis get it by chance, not inheritance.

Is NF curable? What are the current treatment options?

NB: There is no known cure or treatment for NF. Tumors can be monitored by a physician to note any growth and/or pain. Surgery can be performed to remove certain tumors depending on location and number, however, it comes with its own challenges and risks. Cancerous tumors would be removed though surgery, chemotherapy, radiation therapy or a combination.

What is the CDMRP Neurofibromatosis Research Program?

NB: The NFRP first received funding in 1996, when the efforts of NF advocates led to a Congressional appropriation of $8 million to the CDMRP. Since that time, $317.85 million has been appropriated to the program. The goal of this program is to promote research directed toward the understanding, diagnosis and treatment of NF1, NF2 and schwannomatosis to enhance the quality of life for persons with these disorders that impact Service Members, veterans and the general public.

How has the NFRP impacted research on this disorder?

NB: Prior to 1996 when the program first started, there was very little known about the disorder and very few scientists were working on research in the area. With the directed funding approach from the NFRP, we were able to target the needs of the researchers and clinicians. The program also funded the creation of many of the resources that researchers need to study the disease, such as mouse models that can be used to understand basic biology that leads to the symptoms as well as to test drugs. The program has also funded awards such as the New Investigator Award, which targets promising early career stage investigators, as well as established investigators in other research fields to start studying NF. If you look at how the NF research field has advanced since the creation of the NFRP, you can see how much we have advanced our understanding of the disease and how we are now funding multiple clinical trials where before we could not.

How can a researcher apply for NFRP funding?

NB: Anyone interested in applying for potential NF research funding opportunities may go to the CDMRP website to view announcement details, including application deadlines and review criteria, at: http://cdmrp.army.mil/external link.

The Electronic Biomedical Research Application Portal offers a subscription service to receive an email notification as soon as the announcements are released. This can be customized for any research program: https://ebrap.org/eBRAP/programSubscription/Subscribe.htmexternal link.

Are there any informational resources that the NFRP can provide?

NB: The NFRP maintains a list of available NF research resources on the CDMRP website. The goal is to facilitate and speed NF research by publicizing research resources and aiding collaborations. The list displays available resources, as well as repository or principal investigator contact information, located at: http://cdmrp.army.mil/nfrp/resources/nfrpresourcesexternal link.

Are there any unique aspects of the NFRP people should know about?

NB: One unique aspect of CDMRP programs that is also true for the NFRP is that patients, parents and caregivers are involved in setting the strategy for our program, scientific review of proposals and recommending projects for funding. This makes the program more valuable in that those who are most impacted by the disease have a voice in the research to be done that will ultimately benefit individuals living with NF.

To participate as a consumer reviewer for the NFRP, or any of the CDMRP programs, please see the details on the website: http://cdmrp.army.mil/cwg/applyexternal link.

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Last Modified Date: 22-May-2018