Ongoing Clinical Trials for Neurofibromatosis
There are currently 6 ongoing clinical trials investigating treatments for neurofibromatosis, a genetic disorder that causes tumors to grow on nerves. These studies are testing medications such as crizotinib, bevacizumab, trametinib, and selumetinib across several European countries, focusing on different types and age groups affected by this condition.
Clinical trial locations
- France
- Germany
- Italy
- Netherlands
- Poland
- Study on Crizotinib for Treating Severe Neurofibromatosis Type 2 in Children Not Eligible for Surgery or Radiotherapy
- Study on Selumetinib for Adults with Neurofibromatosis Type 1 and Inoperable Plexiform Neurofibromas
- Study on the Effect of Food on Selumetinib in Adolescents with Neurofibromatosis Type 1 Plexiform Neurofibromas
- Spain
Study on Crizotinib for Treating Severe Neurofibromatosis Type 2 in Children Not Eligible for Surgery or Radiotherapy
This trial is testing crizotinib, an oral medication taken in capsule form, for children aged 4 to 15 years with Neurofibromatosis Type 2 (NF-2). This genetic disorder causes tumors to grow in the nervous system, which, while usually non-cancerous, can cause serious health problems.
Main inclusion criteria: Children must be between 4 and 15 years old, able to swallow capsules whole, and have a confirmed diagnosis of NF-2 with multiple tumor sites in the central or peripheral nervous system. They must show evidence of tumor growth on MRI scans, with at least a 10% increase in size over 4 to 12 months. Children need to have adequate blood counts, kidney function, and liver function. They should be expected to live more than one year and have a stable neurological condition for at least a year.
Main exclusion criteria: The study excludes anyone who is not a child, does not have NF-2, cannot undergo imaging tests, or cannot take crizotinib.
Focus and goal: The trial aims to evaluate whether crizotinib can stabilize or reduce tumor size in children with severe NF-2 who cannot have surgery or radiotherapy. The treatment period can last up to 60 days, with continued monitoring for at least six months afterward. The study uses regular MRI scans to measure tumor changes and assess the medication’s effectiveness.
Imaging Study with 89Zr-Bevacizumab for Predicting Treatment Effects in Patients with NF2-Related Schwannomatosis
This study focuses on NF2-related schwannomatosis, a condition where non-cancerous tumors called schwannomas grow on nerves, particularly those responsible for hearing and balance. The trial uses a specialized imaging technique called 89Zr-Bevacizumab PET/CT scanning to predict how well patients will respond to treatment with bevacizumab.
Main inclusion criteria: Patients must be 18 years or older with a confirmed diagnosis of NF2 using specific criteria. They must have provided written informed consent and have at least one measurable vestibular schwannoma larger than 0.4 ml on MRI. They must also be eligible and planned for bevacizumab treatment.
Main exclusion criteria: Those without NF2-related schwannomatosis or who fall outside the specified age range cannot participate.
Focus and goal: The trial investigates whether the imaging scan performed before treatment can predict improvements in hearing or changes in tumor size after starting bevacizumab therapy. Researchers will monitor participants throughout treatment to correlate scan results with clinical outcomes, including hearing response, tumor changes, balance function, and overall well-being.
Study on Trametinib for Patients with Neurofibromatosis Type 1 and Symptomatic Plexiform Neurofibromas
This trial is testing trametinib (also called Mekinist), taken as oral tablets, for people with Neurofibromatosis Type 1 (NF1) who have plexiform neurofibromas—complex nerve tumors that can cause significant symptoms and complications.
Main inclusion criteria: Patients must have NF1 with plexiform neurofibromas that cause symptoms such as pain, disfigurement, or loss of function. They must be at least 18 years old, have normal blood, liver, and kidney function, and have a Karnofsky performance level of 70% or higher. At least one tumor must be measurable and at least 3 cm in size. Patients must be able to swallow and keep down oral medication, and standard treatment options must not be available. Female patients of childbearing age must use effective birth control and have a negative pregnancy test.
Main exclusion criteria: Those who do not have NF1, are younger than 3 years old, or are part of a vulnerable population cannot participate.
Focus and goal: The study aims to determine if trametinib can reduce tumor size by at least 20% as measured by MRI scans. Secondary goals include assessing changes in pain levels, quality of life, and any side effects. The trial is expected to continue until early 2027.
Study on Selumetinib for Adults with Neurofibromatosis Type 1 and Inoperable Plexiform Neurofibromas
This study examines the effectiveness and safety of selumetinib compared to a placebo in treating adults with NF1 who have symptomatic plexiform neurofibromas that cannot be surgically removed.
Main inclusion criteria: Participants must be 18 years or older with a confirmed diagnosis of NF1 and have symptomatic, inoperable plexiform neurofibromas. At least one tumor must be measurable by MRI, and patients must have documented chronic pain from the tumors. Stable pain medication use is required, along with adequate organ and bone marrow function.
Main exclusion criteria: Those without NF1 with symptomatic, inoperable plexiform neurofibromas, those outside the age range, pregnant or breastfeeding individuals, and those taking interfering medications or participating in other recent trials cannot join.
Focus and goal: The trial is a double-blind, randomized study where participants receive either selumetinib capsules (10 mg or 25 mg) or placebo without knowing which. Regular MRI scans assess changes in tumor size, and researchers evaluate pain intensity and quality of life. The study aims to determine if selumetinib can reduce tumor size and alleviate symptoms, with completion expected by May 2025.
Study on Selumetinib for Children Aged 1 to 6 with Neurofibromatosis Type 1 and Inoperable Plexiform Neurofibromas
This trial studies selumetinib in a granule formulation suitable for young children with NF1 and inoperable plexiform neurofibromas. The study focuses on understanding how the body processes the medication and evaluating its safety in this age group.
Main inclusion criteria: Children must be between 1 and 6 years old (at the time of consent) with a diagnosis of NF1 and symptomatic, inoperable plexiform neurofibromas. At least one tumor must be measurable and at least 3 cm in size. Children need a Lansky performance score of at least 70 (or 40 for those with limited mobility) and a body surface area between 0.4 and 1.09 square meters. Parent or guardian consent is required.
Main exclusion criteria: The trial does not specify additional exclusions beyond the inclusion requirements.
Focus and goal: The study evaluates how selumetinib is absorbed and processed in young children’s bodies, monitors safety by observing side effects, and conducts regular health checks including physical exams and MRI scans. Parents provide feedback on ease of medication administration. The trial is designed to improve treatment options for children with NF1-related plexiform neurofibromas, with completion expected in 2028.
Study on the Effect of Food on Selumetinib in Adolescents with Neurofibromatosis Type 1 Plexiform Neurofibromas
This trial investigates how food affects the absorption and tolerability of selumetinib in adolescents with NF1-related plexiform neurofibromas. The medication is taken as hard capsules.
Main inclusion criteria: Participants must be between 12 and under 18 years old with a diagnosis of NF1 and inoperable plexiform neurofibromas. They must need treatment due to symptoms or risk of serious health problems. Those older than 16 need a Karnofsky performance level of 70 or higher, while those 16 or younger need a Lansky performance level of 70 or higher. Body surface area must be between 1.3 and 2.5 square meters. Participants must be able to swallow whole capsules and agree to participate in all three treatment periods. Signed consent from a parent or guardian is required, along with the child’s agreement. Female participants must use effective birth control and have negative pregnancy tests, while male participants must use condoms with spermicide.
Main exclusion criteria: Those without NF1, without plexiform neurofibromas, outside the age range, unable to take the medication as required, with interfering medical conditions, pregnant or breastfeeding, participating in other trials, allergic to the medication, or unable to follow procedures cannot participate.
Focus and goal: The study includes multiple treatment periods where participants take selumetinib with and without food to compare effects on absorption and gastrointestinal side effects. Regular assessments monitor safety and tolerability through laboratory tests, physical examinations, and participant diaries recording gastrointestinal symptoms. The study aims to understand how food intake affects selumetinib’s effectiveness and side effects in adolescents, with completion expected by June 2028.
Summary
The six ongoing trials for neurofibromatosis demonstrate a focused effort on targeted therapies, particularly MEK inhibitors like selumetinib and trametinib. These studies span multiple European countries, with Poland hosting three trials, followed by Spain, Italy, and Germany with two each, and the Netherlands and France each hosting one trial.
A notable feature of these trials is their focus on different patient age groups and types of neurofibromatosis. Two trials target children (one for ages 1-6 and another for ages 4-15), one focuses on adolescents (ages 12-18), and three are designed for adults (18 years and older). The studies address both NF1 and NF2, with most focusing on plexiform neurofibromas that cannot be surgically removed.
Selumetinib appears in four of the six trials, making it the most studied medication across different age groups and formulations. The variety of study designs—from efficacy trials to pharmacokinetic studies examining food effects—reflects a comprehensive approach to understanding these treatments. Most trials emphasize using MRI imaging to measure tumor response and include quality of life assessments alongside traditional clinical endpoints.
