Researchers at Johns Hopkins and around the world are investigating ways to slow the growth of NF-related tumors and prevent them from forming altogether.

Although there is not yet a cure for either neurofibromatosis or schwannomatosis, some patients may benefit from clinical trials. Follow the links below to learn more about the various studies available.

Find a trial for your condition: MPNST | NF1 | NF2 or view patient registries

MPNST Clinical Trials

Neoadjuvant Nivolumab Plus Ipilimumab for Newly Diagnosed Malignant and Pre-malignant Peripheral Nerve Sheath Tumors (MPNST)

• Contact: Josh Roberts, Ph.D. ([email protected])
• Status: Recruiting participants
• Principle investigator: Jaishri Blakeley, M.D.
• Objective: The primary purpose is to explore whether two drugs (nivolumab and ipilimumab) that are approved by the FDA to treat other cancers are safe and feasible to give prior to standard therapy (surgery, chemotherapy or radiation therapy) in patients with Neurofibromatosis Type 1 (NF1) and newly diagnosed pre-malignant and malignant peripheral nerve sheath tumors (MPNST).
• Eligibility Criteria:
  • Eligible patients must have histologically confirmed diagnosis of ANNUBP (atypical neurofibromatous neoplasms of uncertain biologic potential), low grade MPNST or high grade MPNST.
  • Patients may have plexiform neurofibroma or other tumors such as optic pathway glioma, other low-grade glioma or other neoplasm in addition to the ANNUBP, low grade MPNST or high grade MPNST that is stable (has not required treatment in the last 12 months and is not anticipated to need treatment in the next 12 months).
• Procedures: Participants receive immunotherapy with Nivolumab and Ipilimumab prior to surgery and concurrently with standard therapy.
• Compensation available: Yes

A Phase 1/2 Trial of the MEK Inhibitor Selumetinib and Bromodomain Inhibitor AZD5153 with durvalumab (MEDI4736), a PD-L1 Antibody for Sarcomas Including Malignant Peripheral Nerve Sheath Tumors

• Contact: Josh Roberts, Ph.D. ([email protected])
• Status: Opening soon
• Site principle investigator: Jaishri Blakeley, M.D.
• Overview: Based on strong preclinical rationale and evidence, we hypothesize that the combination treatment with selumetinib, AZD5153, and durvalumab will cause tumor regression in patients with unresectable MPNST. We propose a multi-institutional open label phase 1/2 trial of this combination in refractory/unresectable sarcomas including MPNST. There are data that suggest that this combination may benefit patients with other sarcomas in addition to MPNST. Thus, patients with other sarcoma types will be eligible for the phase 1 component of this trial.
• Eligibility Criteria:
  • Individuals ≥ 18 years of age
  • Relapsed or refractory histologically confirmed sarcoma including MPNST. This may be amended when tolerability is established.
• Procedures: Participants will be treated for up to 12 cycles with medications: selumetinib, AZD5153, and/or Durvalumab. Participants will be monitored closely and the study team will help them navigate and schedule the required tests and clinic visits. Tests may include physical exams, pharmacokinetics, MRI imaging, patient reported questionnaires, biopsy, or genomic sequencing, among others at pre-defined dates.
• Compensation available: No

NF1 Clinical Trials

Natural history study of cutaneous neurofibromas in people with Neurofibromatosis Type 1 (NF1)

• Contact: Mandi Johnson ([email protected] or 410-502-7546)
• Status: Recruiting participants
• Principle investigator: Carlos Romo, M.D.
• Overview: This research study is evaluating the natural history of cutaneous neurofibromas in people with NF1 over the course of five years. We are evaluating how neurofibromas in the skin form and change over time, and how they affect people living with NF1. We hope that by understanding this process better we can prioritize research in this field and lead to the development of better clinical trials and treatments. This research will also help define if a novel 3-D camera system can help us monitor cutaneous neurofibromas better, this tool may be used by patients and healthcare professionals to track neurofibromas over time.
• Eligibility Criteria:
  • Age: 1 month - 100 years old
  • Confirmed clinical diagnosis of NF1
  • Ability to travel to Baltimore once yearly for 5 years
• Procedures: This study will require an annual visit for up to 5 years. Once a year participants have a medical-grade photo taken of the whole body (you will be able to wear underwear); complete surveys that may help us monitor symptoms; donate an optional blood sample or a tissue sample from a skin neurofibroma for future research. You will also be required to donate a saliva sample for genetic testing on your first visit only.
• Compensation available: Yes

A Phase 1/2a open-label, multicenter dose finding study to evaluate the safety, tolerability and anti-tumor activity of mirdametinib monotherapy in adults with neurofibromatosis 1 (NF1) and cutaneous neurofibromas (cNF).

• Contact: Josh Roberts, Ph.D. ([email protected])
• Status: Recruiting participants
• Principle investigator: Carlos Romo, M.D.
• Objective: The primary purpose of this study is to evaluate the safety and tolerability of mirdametinib, a MEK inhibitor, and to assess its efficacy in treating cutaneous neurofibromas in people with NF1.
• Eligibility Criteria:
  • Age: ≥ 18 years old
  • Have neurofibromatosis type 1
  • Have at least 24 cutaneous neurofibromas
  • Be in good general health
  • Be willing and able to comply with all aspects of the protocol
• Procedures: Participants receive treatment with mirdametinib, a medication taken by mouth twice daily, for up to 24 cycles (roughly two years). This is a Phase 1/2a, open-label, non-randomized, multi-dose study of mirdametinib. In both phases of the study, participation in the study will include three periods: screening, treatment and post-study safety follow-up. Participants will be evaluated closely with clinic visits, photographs, eye exams, blood and urine tests, and heart evaluations including EKGs and echocardiograms (ultrasounds to monitor heart function).
• Compensation available: No
• For more information, please contact our team or read more on clinicaltrials.gov.

Multi-parametric Biomarker Development to Predict Malignant Conversion in Patients with Neurofibromatosis type 1 (NF1)

• Contact: Josh Roberts, Ph.D. ([email protected])
• Status: Active, not open to recruitment
• Principle investigators: Shivani Ahlawat, M.D. / Carlos Romo, M.D.
• Overview: The purpose of this research study is to evaluate the ability of whole body magnetic resonance imaging (WB-MRI) to screen people living with NF1 for cancerous and pre-cancerous lesions. The imaging findings will be compared with clinical and genetic factors that are believed to be associated with higher-risk for developing cancer.
• Eligibility Criteria:
  • Age: ≥ 6 years old
  • Confirmed diagnosis of NF1
  • Meet the one or more of the following criteria:
    • Personal or family history of malignant peripheral nerve sheath tumor (MPNST)
    • Personal or family history of an atypical neurofibroma or an ANNUBP
    • Personal history of receiving radiation therapy
    • Large burden of plexiform neurofibromas
    • Having NF1 microdeletion syndrome
  • Ability to safely undergo MRI without anesthesia or sedation
• Procedures: If you choose to participate in this study, you will be asked to donate 2 tubes of blood and have a WB-MRI every year for 4 years. The blood draw is optional. The WB-MRI does not involve injection of any MRI contrast agent. If the WB-MRI shows any findings that are worrisome for cancer, you will be asked to have additional tests that are part of your routine NF1 clinical care. All study procedures are non-significant risk. There is no benefit to you for participating in this study, but participating in this study may help other people with NF1 in the future.
• Compensation available: Yes

Evaluating genetic modifiers of cutaneous neurofibromas in adults with Neurofibromatosis Type 1

• Contact: Josh Roberts, Ph.D. ([email protected])
• Status: Active, not open to recruitment
• Principle investigator: Carlos Romo, M.D.
• PI: Kavita Sarin, M.D., Ph.D.
• Overview: This important research study is evaluating potential relations between gene variants (mutations) in the NF1 gene and the formation of neurofibromas in the skin (cutaneous neurofibromas) in people with neurofibromatosis type 1. In addition, we are evaluating the possibility for specific alterations in the NF1 gene may influence the amount of skin neurofibromas in people with NF1. This study will also evaluate if pictures taken on smart phones might be a useful tool in determining the burden of skin neurofibromas. This is a study headed by a colleague at Stanford University in California, Dr. Kavita Sarin, and the Comprehensive NF Center at Johns Hopkins by Dr. Carlos Romo and Dr. Jaishri Blakeley.
• Eligibility Criteria:
  • Age ≥ 40 years old
  • Confirmed clinical diagnosis of NF1
  • Presence of at least 1 cutaneous (skin) neurofibroma
• Procedures: This study is looking for volunteers to donate a saliva sample, to complete a short survey on personal environmental and clinical risk factors, and to submit photos taken with your cell phone of neurofibromas. These tasks can be complete online from home, you do not need to come to Johns Hopkins to participate and people who meet the eligibility criteria may participate from anywhere in the USA. A saliva sample kit is shipped to the home of eligible participants.
• Compensation available: Yes

The Johns Hopkins NF1 biospecimen repository

• Contact: Josh Roberts, Ph.D. ([email protected])
• Status: Recruiting participants
• Principle investigator: Christine Pratilas, M.D.
• Overview: This is an IRB-approved repository for banking tumors from people living with NF1, including plexiform neurofibromas, malignant peripheral nerve sheath tumor (MPNST), and blood fractions.  We also collect and bank other tumors from patients with NF1 including breast cancer, gastrointestinal stromal tumor (GIST), and brain cancer. The goal of this project is to establish a comprehensively annotated biorepository of tissue and blood fractions for use in NF1 research and to increase availability of these tissues to the NF1 research community through scientific resource and data sharing.
• Eligibility Criteria:
  • Confirmed clinical diagnosis of NF1
  • Undergoing surgical excision of an NF1-associated tumor at the Johns Hopkins East Baltimore Campus
• Procedures: Tissue samples are collected according to IRB-approved standard operating procedure on the day of surgery. Tissue banking procedures are in accordance with NCI Best Practices for all banking efforts.
• Compensation available: No

Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals with Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (pNFs)

• Contact: Josh Roberts, Ph.D. ([email protected])
• Status: Recruiting participants
• Site principle investigator: Carlos Romo, M.D.
• Principle Investigator: Pamela Wolters, Ph.D.
• Overview: In this study we will examine any potential changes to an existing patient-reported questionnaire to determine how well the new questionnaires work to measure pNF pain and its impact on the daily lives of individuals with NF1 with the goal to improve the way we measure these issues in children and adults with NF1 and pNFs.
• Eligibility Criteria:
  • Age: ≥ 8 years old
  • Confirmed clinical diagnosis of NF1
  • At least 1 plexiform neurofibroma causing some degree of pain
  • Stable pain treatment regimen
• Procedures: If you choose to participate, you first will have a practice session with a member of the study team in clinic. During this time, participants will complete a questionnaire to collect basic demographic information as well as the severity of your NF1 symptoms and symptoms of anxiety and depression, which may relate to pain. We also will teach you how to use the electronic pain questionnaires that we will ask you to complete at home using either a mobile app, computer, or tablet, whichever you prefer. In addition, we will ask you to complete a questionnaire about how pain interferes your daily life and questionnaires about your physical function and cognitive function daily for two weeks.
• Compensation available: Yes

A Phase 1/1b/2 Study of Cabozantinib in Combination with Selumetinib for Plexiform Neurofibroma in Adults and Adolescents with Neurofibromatosis Type 1

• Contact: Josh Roberts, Ph.D. ([email protected])
• Status: Opening soon
• Site principle investigator: Carlos Romo, M.D.
• Overview: This study will explore the use of two medications, cabozantinib and selumetinib, for the treatment of plexiform neurofibromas in adults and adolescents with NF1. Our objective is to define a safe dose of these medications, to study the safety of using this combination and to preliminarily define the efficacy of these drugs in combination.
• Eligibility Criteria:
  • Age: ≥ 16 years old
  • Clinical diagnosis of NF1
  • Plexiform neurofibromas that are increasing in size, are causing symptoms and are inoperable
  • Other eligibility criteria available upon request
• Procedures: Participants with a plexiform neurofibroma that is causing symptoms or progressing (increasing in size by more than 20% within the prior 18 months) will be treated for up to 24 cycles with the combination of two oral medications, cabozantinib and selumetinib. Participants will be monitored closely and the study team will help them navigate and schedule the required tests and clinic visits. Tests will include physical exams, evaluations by ophthalmologists, echocardiograms (ultrasounds of the heart), MRIs, and laboratory blood tests among others at pre-defined dates. 
• Compensation available: No

A Randomized, Double-Blind, Vehicle-Controlled, Parallel Group Phase 2 Dose-Response Study to Determine Safety and Effectiveness of Two Concentrations of NFX-179 Gel in Subjects with Cutaneous Neurofibromas

• Contact: Josh Roberts, Ph.D. ([email protected])
• Status: Completed, not open for recruitment
• Site principle investigator: Jaishri Blakeley, M.D.
• Overview: The main purpose of this study is to test the safety and effectiveness of 2 concentrations of NFX-179 Gel (0.5% and 1.5%) compared to a vehicle gel (a gel that looks like NFX-179 Gel but does not contain any NFX-179) when applied to cNF lesions. If you agree to participate in this study and are eligible, you will be randomly assigned (by chance, like flipping a coin) to receive NFX-179 Gel (active drug) or the vehicle gel (placebo, meaning no active drug). You will have tests and procedures throughout the study in order to monitor your health and evaluate the effects of the study drug. Length of participation will be up to 34 weeks with 9 on-site visits at Johns Hopkins Hospital
• Eligibility Criteria:
  • Age ≥ 18 years old
  • Clinical diagnosis of Neurofibromatosis type 1
  • Must have at least 10 Cutaneous Neurofibromas on your skin
• Procedures: Participation consists of 9 onsite visits to Johns Hopkins Hospital. During these visits study staff will conduct physical examinations, draw blood samples, complete questionnaires, and take photographs of select neurofibromas on your skin. While at home you will be expected to apply a topical gel to the select neurofibromas as directed.
• Compensation available: Yes

NF2 Clinical Trials

Innovative Trial for Understanding the Impact of Targeted Therapies in NF2 (INTUITT-NF2) – Neratinib Arm

• Contact: Josh Roberts, Ph.D. ([email protected])
• Status: Opening soon
• Site principle investigator: Jaishri Blakeley, M.D.
• Overview: This research study is a Phase 2 clinical trial. Phase 2 clinical trials test the safety and efficacy of investigational drugs to learn whether the drug(s) works in treating a specific disease. As a basket study, the trial will enroll people with NF2-related schwannomatosis (formerly known as neurofibromatosis type 2, or NF2) with tumors that are progressing (increasing in size), including vestibular schwannomas (VS), non-vestibular schwannomas (non-VS), meningiomas, or ependymomas. Currently, there are two drug sub-studies: sub-study A is evaluating a medication called brigatinib, this is closed to enrollment), and sub-study B: neratinib, which will open in the next few months.
• Eligibility Criteria:
  • Age: ≥ 12 years old
  • Clinical diagnosis of NF2
  • Target NF2-related tumor (VS, non-VS, meningioma, or ependymoma) with documented radiographic progression within the preceding 36 months
• Procedures: Participants joining the neratinib arm will be treated with 200-240 mg by mouth daily. Participants will be monitored closely in an out-patient setting and the study team will help them navigate and schedule the required tests and clinic visits. Tests will include physical exams, MRIs, audiological assessments, and laboratory blood tests among others at pre-defined dates. 
• Compensation available: No

Patient Registries

Patient registries help NF researchers better understand the disease. Volunteers opt-in to share information with experts across a secure database. Researchers use that data to study disease trends and treatment effectiveness. 

NF1 Adult Glioma Registry

• Contact: Josh Roberts, Ph.D. ([email protected])
• Status: Recruiting participants
• Site Principal investigator: Jaishri Blakeley, M.D.
• PI: Anna Piotrowski, M.D.
• Overview: We are gathering health data about people with NF1 who have brain tumors called gliomas (gliomas are also known by different names, including astrocytomas, gangliogliomas and others). The information being gathered includes diagnosis, treatments, lab and pathology results, and MRI scans of the brain or spine. Our research team is looking for patterns across the community that can help us to develop new therapies.
• Eligibility Criteria:
  • Age: ≥18 years old
  • Confirmed clinical diagnosis of NF1 living in the United States
  • Confirmed diagnosis of a glioma (this could include any form of astrocytomas)
• Procedures: Participants share their medical records, including their test results and imaging through the NF1 Glioma Registry portal (nf1braintumor.org). Every participant has the right to access their medical information as established under the Health Insurance Portability and Accountability Act. Depending on whether you already have access to your data or not, there are a few steps you might need to take prior to sharing your protected information with us.
• Compensation available: No

International Schwannomatosis Database

This database is maintained with the vision of bringing together patients with schwannomatosis who want to help researchers who are sponsoring trials. By connecting patients and researchers more effectively, the registry seeks to better understand schwannomatosis and uncover helpful treatment options.

Learn more about the schwannomatosis database

Children's Tumor Foundation NF Registry

If you are an adult with NF (NF1, NF2 or schwannomatosis) or the parent or guardian of a child with NF, joining the NF Registry is an easy way to get involved and contribute to more effective treatments. The NF Registry, created by the Children's Tumor Foundation, is a listing of volunteers for participation in clinical trials, and those willing to share information. Researchers use secure methods to identify trends and characteristics of NF incidence and clinical course.

Learn more about the NF registry

The Neurofibromatosis Acceleration Program at Johns Hopkins (NTAP)

The Comprehensive Neurofibromatosis Center at Johns Hopkins closely collaborates with NTAP. NTAP is dedicated to advancing treatment options for people with NF1-associated neurofibromas (cutaneous, plexiform and atypical).

In order to do this, we:

• Identify the most promising opportunities to develop effective therapies
• Deliver the critical support, resources, and directives to develop these ideas and ensure successful follow-through
• Remove obstacles to ensure patients benefit from research advances as quickly as possible.

NTAP uses a highly collaborative approach that brings together patients, clinicians, researchers, industry, and government to determine where resources are most effectively deployed to produce meaningful treatments. Exceptional partners with innovative ideas are recruited to make these plans a reality, through both targeted programs and investigator-initiated proposals. NTAP invests in all areas of therapeutic discovery, always keeping the final goal of an effective therapy for a real patient at the center of the project goal.

Learn more about NTAP