Neurofibromatosis Clinic

Overview

Physicians at the Neurofibromatosis Clinic use a family-centered approach to diagnosing, treating and managing care for individuals with neurofibromatosis (NF) at all stages of life. We host over 700 patient visits a year and serve as a national and international referral center for NF1, NF2 and schwannomatosis.

What to Expect

To make an appointment at the Neurofibromatosis Clinic, call 617-724-7856. Please see the New Patient Checklist for a list of items (e.g. MRI scans, pathology records) you must send us beforehand.

At your first visit, a neurologist reviews these materials and your medical history with you. He or she also performs a thorough physical and neurological examination.

Another important step in the evaluation process is a careful ophthalmic assessment for signs of NF by physicians at the nearby Massachusetts Eye & Ear. Other specialties may also be involved, including dermatology, audiology, otolaryngology, neurosurgery and endocrinology.

Once we have established a diagnosis, we work with you and family members to develop a personalized treatment or monitoring plan. One of the most valuable services we offer is to record your NF-related medical problems. If you choose to have follow-up care with your primary care physician, we will provide him or her with specific information for tracking and managing your symptoms going forward.

For patients continuing their care at Mass General, the NF team will coordinate your care among various specialists who are experienced in treating the different manifestations of NF. Individual treatment plans vary greatly, depending on a number of factors. If you have no major symptoms, we may only need to see you once a year for monitoring purposes. Patients with more acute symptoms may require medication and/or surgery.

Genetic Counseling for Neurofibromatosis Patients

Recognizing that NF1, NF2 and schwannomatosis are genetic disorders, we see genetic counseling as a key component of what we do. As new reproductive technologies and screening techniques become available, prospective parents have important decisions to make. Our clinic helps educate patients about these choices and works with families to make decisions that are consistent with their core values and wishes.

If appropriate, we can refer you to Mass General resources such as the Ultrasound and Prenatal Diagnostic Center, which offers screening and testing for genetic syndromes. In addition, we can refer you to the Reproductive Endocrinology Group or the Preimplantation Genetic Diagnosis Program for help in giving birth to an unaffected child.

About This Program

Physicians at the Neurofibromatosis Clinic manage the evaluation, diagnosis and treatment of:

• Neurofibromatosis 1 (NF1): previously known as von Recklinghausen disease or peripheral NF
• Neurofibromatosis 2 (NF2): previously known as central NF
• Schwannomatosis: a form of NF that has been recognized only recently

The Neurofibromatosis Clinic—one of the few clinics of its kind in the United States—was founded by Robert Martuza, MD, in 1982.

We have been pioneers in taking a multidisciplinary approach to caring for NF patients and their families. These conditions can impact many different organ systems, so patients benefit from the specialized expertise of our colleagues in neurosurgery, plastic surgery, surgical oncology and endocrinology, as well other clinical areas at Mass General.

Mass General’s Neurofibromatosis Clinic is one of the few in the country that sees both adults and children. In addition, our ability to care for the entire family (including infants, children, adults and elders) sets us apart from most other clinics.

Research & Clinical Trials

Although clinical care is our first priority, we are also committed to developing new treatments with the support of the Cancer Center and Center for Genomic Medicine (CGM). In fact, many milestones in NF research have taken place at Mass General:

• CHGR director James Gusella, PhD, conducted much of the essential work to identify the NF1 gene
• Martuza and Gusella helped clone the NF2 gene
• Mia MacCollin, MD, then the director of our clinic, published an important paper that helped identify schwannomatosis as a disorder distinct from NF2
• Current clinic director Scott Plotkin, MD, PhD, has focused his research on identifying new medical treatments for NF

Ongoing Clinical Trials of NF1 & NF2

Mass General is one of the world's most active sites for clinical trials of NF1 and NF2. We hope to add schwannomatosis to this list soon.

The Neurology Department is now participating in exciting clinical trials exploring topics such as:

• Medical treatments (e.g. chemotherapy) for NF1 and NF2
• Whole-body magnetic resonance imaging (MRI) scanning to identify internal tumors

Our current efforts in basic research include studying the genetic basis of schwannomatosis as well as collecting blood samples from NF patients for analysis by the Mass General Center for Genomic Medicine.

For more information about NF research at Mass General, please call 617-724-7856.