Participate in Research

Today, there are several potential drugs in development for the treatment of Neurofibromatosis.  These new therapies can only be made available to the people who meet the requirements of the different clinical trials.  Each study has a different set of requirements, which you can learn more about below. People with NF can play a critical role in the development of new treatments and the search for a cure by participating in clinical trials.

National Institutes of Health Clinical Trials

View all of the current clinical trials sponsored by the National Institutes of Health.

NF Consortium Clinical Trials

The NF Consortium is dedicated to conducting clinical trials to improve the quality of life of persons with Neurofibromatosis. The consortium consists of nine clinical centers around the U.S. To find out more about the clinical centers and clinical trials please visit the NF Consortium website.

NF1 Cognitive Function and Brain Structure Research Study

This current research study aims to examine emotional adjustment, thought
processes such as memory and attention, and brain structure and activity in
children and adolescents with NF1, as compared to children and adolescents
without the disorder.

Eligibility:
• Age 7-16
• Confirmed diagnosis of NF1
• No diagnosis of a disorder of the brain or nervous system (such as
  epilepsy, encephalitis, brain tumor, etc.) ?No use of drugs or alcohol abuse
• Able to complete study measures and interviews in English

Study Duration: 1-2 Days

Study Procedures:
Medical exam, blood test, neuropsychological evaluation, magnetic resonance
imaging (MRI), psychophysiological testing, social/emotional assessment

Contact Information:
Nicole Enrique at 310-825-3458
Email: beardenlab.ucla@gmail.com
Principal Investigator: Carrie Bearden, Ph.D.
Department: Depts of Psychiatry and Biobehavioral Sciences & Psychology

View the brochure for more information.

UCLA Neurofibromatosis Type 1 Research Study

Investigators have recently embarked on a study to further expand the knowledge of NF1 in humans. It is hoped that the information gathered from this study may help to develop treatments for the learning problems experienced by many people with the disorder.

This current research study, conducted by investigators, Carrie Bearden, Ph. D., Departments of Psychiatry and Biobehavioral Sciences and Psychology, Alcino J. Silva, Ph. D., Departments of Psychology, and Neurobiology, and Tena Rosser, M.D., Children’s Hospital Los Angeles, will examine the safety of lovastatin (medication used to treat high cholesterol) in people with NF1. Dr. Silva, a professor at UCLA Medical School, has been studying an animal model of NF1, and his group has made important findings regarding the use of lovastatin to treat some of the cognitive problems often reported by humans with NF1.

What Will Participation Include?
After an initial medical exam and blood test to determine eligibility, participation will include taking medication or placebo (pills without medicine), neuropsychological tests, 2-3 magnetic resonance imaging (MRI) sessions, social/emotional evaluation, and follow-up medical exams and blood tests. All procedures will be explained carefully, and all participation is completely VOLUNTARY. You may withdraw from the study at any time. There is no cost to be a participant.

Who May Be Eligible to Participate?
1. Individuals between the ages of 10-45 with a diagnosis of Neurofibromatosis Type 1
2. No history of any neurological disorders (such as epilepsy, encephalitis, etc.)
3. Not currently taking a cholesterol lowering medication and not suffering from high cholesterol
4. Not pregnant or nursing
5. No evidence of liver disease
6. No drug or alcohol abuse

Contact Information
If you are interested in finding out more about this research study, please call Nicole Enrique at (310) 825-3458 or email beardenlab.ucla@gmail.com
(individuals under 18 must have their parents call.)

Neurofibromatosis Research Study for Adults: Learning More About Fractures in Adults with NF1

This is a research study to find out if people with neurofibromatosis type 1 (NF1) break their bones more often and have different types of broken bones (fractures) than those who do not have the condition. Adults 40-70 years old with NF1 and their spouses and/or siblings who do not have NF1 may be eligible to participate.

This study consists of completing a survey that is estimated to take a total of 20 minutes to complete. The survey contains questions about participants’ fracture history, physical activity, and diet. Specifically, the survey will ask participants to provide information about whether they have had a fracture (and, if so, how many, where they occurred, and how they healed).

More Information

Study Investigating Tibial Bowing

Investigators at the University of Utah are looking for individuals to participate in a research study investigating the clinical outcomes of tibial bowing and pseudarthrosis in neurofibromatosis type 1 (NF1)

The study includes:
  - Medical history
  - Blood and urine sample
  - Ultrasound of the leg

Individuals with tibial bowing who qualify for the study will receive compensation for time lost. 

Individuals will need to travel to the University of Utah for a one day evaluation.  Costs for travel to the University of Utah will be provided per protocol for the individual and one accompanying parent/guardian.

For more information and/or to arrange to participate, please call Heather Hanson or Dr. David Stevenson at the University of Utah Clinical Genetics Research Program at 801-587-9017 or 801-581-4296 or 877-942-6600.

NF1 Plexiform Treatment Study

Indiana UniversitySchool of Medicine and the Riley Hospital for Children are condulcting pilot studies for treatment of NF1.  If you have Type 1 Neurofibromatosis with Plexiform Neurofibromas you may be interested in NF1 Plexiform treatment studies, for children and adults, being developed by Riley Hospital Physicians and Researchers, in partnership with Indiana University School of Medicine Physician and Researchers.

If you are interested in additional information about these studies, and want to see if you qualify, please contact
Michelle Mellencamp, RN,
between 9 am and 4 pm, M-F at:
317-274-7102

Development of a Neurofibromatosis Type 1 Quality of Life Study

Indiana University is looking for adult and youth volunteers to take a survey about NF1 and how it affects your health and well being.  This study will help to better understand how NF1 affects your health and well being, and help to measure how well treatments for NF1 are working.  We need adults with NF1, parents of children with NF1 and young adults 14 years and older with NF1. The study consists of an online survey about NF1, what it is like to have NF1 and how it affects health and well being.  The study is completely anonymous and does not require any personal information.  To take the online survey choose one of the following:

Adults with NF1
Parents of children with NF1
Youth 14 years or older with NF1

NF1 and Breast Cancer study

For the past several years researchers have suspected that there is a higher risk for breast cancer in individuals with NF1.  This research has now come to Michigan.  Dr. Xia Wang at Henry Ford Hospital isworking on a grant from the Department of Defence to study breast cancer in NF1. 
If you or a family member with NF1 has had breast cancer, regardless of how long ago, please consider contacting Dr. Wang to help her gather data.  Simply email her at xwang1@hfhs.org.  She’ll send you all the information you need to decide whether you wish to participate. 

You may also contact Dr. Wang by phone:

Xia Wang MD, PhD, FACMG
Department of Medical Genetics
Henry Ford Health System
3031 W. Grand Blvd., Ste. 700
Detroit, MI 48202
Tel   (313) 916-3188
Fax   (313) 916-1730

Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2

To estimate the objective response rates to RAD001 in patients with NF2-related tumors including cranial nerve schwannomas, meningiomas and ependymomas. Radiographic response for study purposes = greater than or equal to 15% reduction in tumor volume in any of the target tumors (partial response). Complete disappearance of any of the target tumors = complete response. MRI of the brain and spine will be performed every 3 months. If an objective response (15% reduction in tumor volume compared to baseline) is observed in any target tumor or stable disease. For more information, you can see the full trial on the clinicaltrial.gov website HERE.

Medical Transition Survey

The Masters in Genetic Counseling program at the University of Maryland would like to invite you to participate in a research project that evaluates how individuals proceed through medical transition and the barriers they face.  The process of medical transition is one that individuals complete as they age and acquire skills to take responsibility for their condition.  This process often requires that individuals transfer care from a pediatric setting to an adult internal medicine care provider once the patient reaches a certain age. This study investigates the knowledge and experiences of individuals who are planning to undergo medical transition or who have done so within the last five to ten years (or been the care provider for someone who went through medical transition.) 

You may access the survey at the hyperlink below.  It should take about 15 minutes to complete the survey.  Once completed, you may submit the survey online.

TAKE THE SURVEY

This project has received IRB approval from the University of Maryland IRB.  If you have any questions about the approval of this study, please contact the IRB at (410) 706-5037.  The study is completely anonymous in nature; no identifying information will be asked or required for survey participation and submission.  There are no anticipated risks associated with this study.  Your participation in this study is completely voluntary, but would be greatly appreciated and is important for the development of a medical transition clinic at the University of Maryland. You may choose not to participate in the survey at any time before or during your completion of the survey.

Please feel free to contact us with any questions or if you need assistance accessing the survey.  Your participation and contribution in the completion of this research study is greatly appreciated.

Shannan DeLany Dixon, MS, CGC
Director, Masters in Genetic Counseling Training Program
University of Maryland School of Medicine
660 West Redwood Street
Suite 570—Howard Hall
Baltimore, MD 21201
(410) 706-4713
sdelany@som.umaryland.edu

University of Utah Clinical Genetics Research Program: Study Investigating Tibial Bowing

Investigators at the University of Utah are looking for individuals to participate in a research study investigating the clinical outcomes of tibial bowing and pseudarthrosis in neurofibromatosis type 1 (NF1)

The study includes:
  - Medical history
  - Blood and urine sample
  - Ultrasound of the leg

Individuals with tibial bowing who qualify for the study will receive compensation for time lost.

Individuals will need to travel to the University of Utah for a one day evaluation.  Costs for travel to the University of Utah will be provided per protocol for the individual and one accompanying parent/guardian.

For more information and/or to arrange to participate, please call Heather Hanson or Dr. David Stevenson at the University of Utah Clinical Genetics Research Program at 801-587-9017 or 801-581-4296 or 1-877-942-6600.

Washington University’s NF Center Launches a DNA Bank for Future Genetic Research

The Washington University Neurofibromatosis (NF) Center has established a one-of-a-kind NF1 DNA Bank that will collect blood samples from individuals with NF1.  The 5 mL blood samples will be used to extract DNA for future research aimed at identifying children at greatest risk for specific medical problems associated with NF1. Participants are also asked to fill out a short questionnaire. The information gathered from the questionnaire and medical record (if available) is then linked to the participant’s DNA on a secure server at The Washington University School of Medicine. 

With advancing technology in the field of genome science, scientists and physicians at the NF Center are working together to determine how subtle changes in our DNA lead to the wide variety of medical problems seen in people with NF1.  Knowledge gained form these studies will help doctors and scientists better predict who will develop these problems, and may lead to the design of more effective drug therapies.

Blood is taken in the outpatient lab at St. Louis Children’s Hospital at no cost to the participant.  All family members with a diagnosis of NF1 are encouraged to give blood.  Arrangements can also be made to obtain blood samples drawn at locations other than St. Louis Children’s Hospital. 

Interested families should contact Team NF at NFClinic@neuro.wustl.edu.

Washington University’s NF Center Launches Internet-based NF1 Registry

The Washington University Neurofibromatosis (NF) Center is launching a unique internet-based NF1 Registry that will collect medical information to help physicians and researchers better understand the spectrum of medical problems found in children and adults with NF1.  All individuals with a diagnosis of NF1 are eligible to complete the 30-minute online questionnaire.

The information collected from the NF1 Registry will be used to better characterize the relationships between specific problems in NF1.  In particular, researchers hope to better understand correlations between NF1 and cancer, heart problems, allergies, depression, and learning disabilities.  The Washington University NF1 Registry will enable studies that aim to identify children and adults at greatest risk for specific medical problems in NF1.  These studies may help clinicians to develop personalized treatment strategies that improve the quality of life for individuals living with NF1. All information is housed on a secure server in compliance with established HIPAA guidelines.

To access the registry, simply go to the NF Center homepage and click on the “NF1 Registry” gold icon on the bottom left side of the screen. 

UCLA Clinical Trial

Professor Alcino Silva at UCLA announces a clinical trial to establish the safety Lovastatin on humans with NF1 in hopes that it could be a potential treatment for cognitive deficits associated with NF1. Learn more about the clinical trial or download the brochure.

 

 

Wishing Melissa Shea Malerba the best as she once again runs the #BostonMarathon for #NFincNE. You make us proud! #BostonStrong #Boston