Neurofibromatosis encompasses several genetic conditions — most commonly NF1 and NF2 — causing benign and sometimes malignant tumors to grow along nerves throughout the body. NF1 causes café-au-lait spots, neurofibromas, learning difficulties, and sometimes aggressive malignant peripheral nerve sheath tumors, while NF2 and the related condition schwannomatosis cause vestibular schwannomas that can cause deafness and neurological deficits.
What's actually going on in research
Selumetinib, a MEK inhibitor, is now approved for pediatric NF1 patients with inoperable plexiform neurofibromas and has significantly reduced tumor size and improved function. Trials are evaluating MEK inhibitors in adults, in malignant peripheral nerve sheath tumors, and in NF2-related schwannomas. Drugs targeting the NF2/merlin pathway including Hippo pathway inhibitors and TORC1/2 inhibitors are also being studied for NF2 and schwannomatosis.
MEK inhibitor expansion
Selumetinib and second-generation MEK inhibitors are being studied in adults with NF1, in malignant peripheral nerve sheath tumors, and in children with NF1-associated low-grade glioma.
NF2 targeted therapy
FAK inhibitors, mTOR inhibitors, and drugs targeting the downstream effects of merlin loss are in trials for NF2-associated vestibular schwannomas and meningiomas, where selumetinib has been less effective.
CRISPR and gene-based approaches
Early preclinical and first-in-human studies are exploring whether restoring NF1 or NF2 gene function through gene-correction or gene replacement strategies can halt tumor formation.
What to know before you search
Eligibility depends on NF type (NF1, NF2, or schwannomatosis), tumor location and size, and prior surgery or systemic treatment.
What types of trials are currently open
- MEK inhibitor trials — Testing selumetinib and next-generation MEK inhibitors for plexiform neurofibromas and NF1-related tumors.
- NF2 and schwannomatosis trials — Evaluating targeted drugs for vestibular schwannomas and meningiomas caused by NF2 mutations.
- Malignant PNST trials — Testing drug combinations and immunotherapy for aggressive malignant peripheral nerve sheath tumors.
- Low-grade glioma trials — Studying MEK and BRAF inhibitors for NF1-related optic pathway and other brain tumors.
- Surgical and radiosurgery trials — Comparing observation, surgery, and focused radiation for NF2-related vestibular schwannomas.
Recently added Neurofibromatosis trials
Evaluation of TQ-B3234 Capsules in Patients With Symptomatic, Non-Surgical Type 1 Neurofibromatosis-Associated Plexiform Neurofibromas
This study aims to demonstrate that in subjects with symptomatic, inoperable plexiform neurofibromas associated with neurofibromatosis type 1, TQ-B3234 capsules significantly improve the objective response rate at Week 24 compared to placebo.
DoD Award NF230020 Identification of Metabolic Markers and Statistical Prediction of MPNST for Rapid Diagnosis and Assessment of Surgical Margins
The goal of this clinical research study is to learn if a handheld Mass Spectrometry device (MasSpec Pen) can accurately distinguish between masses, neurofibroma, and normal tissue during surgery.
Find Neurofibromatosis trials matched specifically to you
Answer 3 quick questions and we'll show you trials that fit your situation.