Areas of Research

NFCA supported research includes local Study conducted at the Children’s Hospital of Pittsburgh: “Headaches in Neurofibromatosis-1.” This Study is open to everyone > 5 years of age with a confirmed diagnosis of NF-1 (whether you have headache or not). Please contact Investigator Dr. Kathy Gardner ( or Study Coordinator Dr. Pelin Duzenli at 412-648-3299 for more information.

Congressionally Directed Medical Research

“Psychological Response to Genetic Information” — Dr. Catherine Read, Boston College

Study on Quality of Life issues for children and adolescents ages 8-17
Interviews for parents by phone
Stipend involved for families who participate

Secretary: Clair Bergongie
West Virginia University, Morgantown
8:30 -4:45 office hours

Children’s Hospital of Pittsburgh has recently opened the following trial for participants: A Phase I/II Trial of PEG12000 Interferon alfa-2b (PEG-Intron) for Plexiform Neurofibromas — For further information, please contact NFCA at (412) 795-3029 or by Email:


Mitochondrial polymorphism and number of neurofibromas in NF1

We are conducting a research study that is designed to explore the reason why some individuals with NF-1 develop a large number of neurofibromas whereas others may develop a smaller number. We believe that there may be genes aside from the NF gene itself that help to determine the overall number of neurofibromas a person with NF will develop. In order to test this idea, we are recruiting individuals with NF to participate in our study. Specifically, we are looking for individuals who fit in any of the following categories:

Age Number of Neurofibromas
18-20 years old — fewer than 5 or more than 30
20-30 years old — fewer than 10 or more than 100
30-40 years old — fewer than 20 or more than 200
older than 40 years — fewer than 50 or more than 500
Participation in the study will have a physical examination and donate 20 ml (about 4 teaspoons) of blood. If you fit into any of the above categories and are interested in participating, or have any questions, please contact the investigator in charge of this study.

Andreas Kurtz, Ph.D.
(617) 726-5620
Massachusetts General Hospital
Boston, Massachusetts
Study of tumor growth factors, growth factor receptors and signaling pathways in neurofibroma cells
Contact: Dr. Nancy Ratner at the University of Cincinnati
NF 1 and Learning Disabilities
Martha Bridge Denckla, M.D. – Principal Investigator
Kennedy Krieger Institute
Johns Hopkins School of Medicine

Cognitive, Learning, Behavioral aspects of NF

Principal Investigator:
Gene Fisch, Ph.D. (psychologist) Yale Child Study Center Yale University School of Medicine
New Haven, Connecticut. e-mail:
Math Skills Development Project

Midkine as a diagnostic marker for neurofibromatosis.

Principal investigator: Andreas Kurtz, Ph.D.

We are conducting a research study that is designed to explore a diagnostic blood test for NF1 and NF2. The protein midkine is often found in the serum of individuals with neurofibromatosis at high levels. If this result can be confirmed in a large number of individuals, midkine could become an independent diagnostic marker for NF1 and for NF2. In order to test this idea, we are recruiting individuals diagnosed with NF1 or NF2 to participate in our study.

If you have NF1 or NF2 and are interested in participating, or have any questions, please contact the investigator in charge of this study (contact information below). After this initial contact, participants will need to visit their regular physician to donate 10 ml of blood (about 2 teaspoons) and answer a brief questionnaire regarding your symptoms.

If you are interested in participating, or have any questions, please contact the investigator in charge of this study.

George A. Mashour, M.D., Ph.D.
Andreas Kurtz, Ph.D.
Phone: (617) 726-4821 Fax: (617) 726 4821
Molecular Neurosurgery Laboratory
Massachusetts General Hospital, Harvard Medical School
Boston, Massachusetts
Phase II Clinical Trial of Pirfenidone for the Treatment of Adults with NF-1
Mayo Clinic, Rochester, Minesota
Dusica Babovic-Vuksanovic, M.D. at (507) 284-3215

This is a 2 year study to evaluate effects of Pirfenidone on arresting growth and decreasing size of plexiform neurofibromas and spinal neurofibromas in adult patients with NF-1. An MRI with Gadolimium contrast will be taken and blood will be drawn on a regular basis to monitor the drug level in the blood. Patients will receive Pirfenidone with meals three times a day for 2 years. Every 6 months patients will have repeated examiniations by the physician and imaging of the tumor. Samples of the patient’s blood will be used and stored for future research use by investigators at the Mayo Clinic.

Phase II Trial of R115777 for NF-1
National Cancer Institute, Bethesda, Maryland
Brigitte Widemann, M.d. at (301) 496-7387 or Frank Balis, M.D. at (301) 496-0085

This is a clinical trial of an investigational drug called R115777 that blocks farnesyltransferase in patients 26 years and younger with NF-1 who have measurable growing plexiform neurofibromas.

Natural History of Vestibular Schwannomas in NF-2
House Ear Institute, Los Angeles, California
William H. Slattery III, M.D.; Gloria Yoon at (213) 274-8008

This study is to track the growth of acoustic neuromas in NF-2 patients. Information from yearly MRI scans, hearing tests, and neurological check-ups is collected for 3 years. Other studies will be performed to correlate the natural history of the disease with genetic and tumor-tissue information. To participate in the study, the NF-2 diagnosis had to have been mae on or after October 1, 1993 with at least one untreated acoustic neuroma which will remain untreated for the next 12 months.

Dr. Hiroshi Maruta’s Presentation at ALDA Con, Sept. 2004 Xenograft Paper (NF1)

New FDA approval for plexiform tumor treatment with selumetinibsi

On April 10, 2020, the Food and Drug Administration approved selumetinib (KOSELUGO, AstraZeneca) for pediatric patients, 2 years of age and older, with neurofibromatosis type 1 (NF1) who have symptomatic, inoperable plexiform neurofibromas (PN).