Research: Advancing Knowledge, Improving Care
Research is at the heart of improving diagnosis, treatment, and quality of life for people living with neurofibromatosis (NF). Across Canada and internationally, researchers, clinicians, and patient communities are working together to better understand NF1, NF2-SWN, and schwannomatosis, and to develop safer, more effective treatment options.
While there is currently no cure for NF, research has led to meaningful advances in targeted therapies, clinical care, and supportive interventions. This is an overview of current research directions, clinical trials underway in Canada, and how new treatments move through the drug approval and access process.
Clinical Trials in Canada
Numerous clinical trials for NF are currently underway in Canada, exploring targeted therapies, supportive treatments, and quality-of-life interventions. Canadian institutions including the University Health Network are actively involved in research and clinical trials for NF1, NF2-SWN, and schwannomatosis, contributing to both national and international studies.
Clinical trials are essential for:
- Testing the safety and effectiveness of new therapies
- Identifying optimal dosing and treatment combinations
- Expanding access to emerging treatments
- Improving symptom management and daily functioning
Participation in clinical trials is always voluntary and subject to strict ethical and safety oversight.
Key Areas of Research
Targeted Therapies (MEK Inhibitors)
Targeted therapies are a major focus of NF research. Selumetinib (Koselugo) is approved in Canada for pediatric patients (ages 2+) with symptomatic, inoperable NF1-associated plexiform neurofibromas and has demonstrated significant benefit in clinical trials.
Other MEK inhibitors, including mirdametinib and trametinib, are currently being studied in various phases of clinical trials, some of which include Canadian research sites.
Gene-Based Research
Researchers are investigating ways to address the underlying genetic changes that cause NF. These approaches, including gene therapy and gene-editing strategies, remain experimental but represent promising long-term directions for NF research.
Novel Drug Approaches
Canadian researchers are also exploring:
- New drug combinations
- Topical treatments, such as NFX-179 Gel, designed for cutaneous neurofibromas
- Therapies aimed at reducing symptoms and improving daily comfort
NF and Cancer Research
Partnerships between organizations such as the Canadian Cancer Society and academic institutions are supporting research into the links between NF1 and cancer. These studies aim to improve early detection, risk assessment, and preventative strategies.
Active Clinical Trials in Canada (as of early 2026)
Below are examples of ongoing or recently active clinical trials involving people with NF. Some studies are international trials that include Canadian research sites.
Trametinib for Pediatric Tumours
Phase 2 Clinical Trial: This study is evaluating trametinib (Mekinist) in children and young adults aged 1 month to 25 years with:
NF1-associated Plexiform Neurofibromas, or Pediatric Low-Grade Gliomas
The trial is examining how well trametinib works and how safe it is for younger patients.
Mirdametinib + Vinblastine
This study is investigating a combination therapy using mirdametinib and vinblastine for individuals with NF1-associated tumours, or Low-grade gliomas. The trial is designed to assess safety, dosing, and early effectiveness of this treatment combination.
Efficacy and Safety of Selumetinib in Adults With NF1
This international study is evaluating the effectiveness and safety of selumetinib in adults with NF1 who have symptomatic, inoperable plexiform neurofibromas. The goal is to better understand how selumetinib may benefit adult patients, as most earlier studies focused on children.
Selumetinib vs. Carboplatin/Vincristine in NF1-Associated Low-Grade Glioma
This study compares selumetinib, a targeted therapy, carboplatin and vincristine, a standard chemotherapy combination to determine whether selumetinib works as well as standard treatment in controlling tumour growth, and whether it may offer better outcomes for vision in patients with low-grade gliomas affecting the optic pathway.
Selumetinib Alone vs. Selumetinib + Vinblastine
This study examines whether adding vinblastine to selumetinib provides additional benefit compared to selumetinib alone in children and young adults with recurrent low-grade glioma or, progressive low-grade glioma.The trial also helps determine the most effective and safest dosing strategy.
Pediatric Long-Term Follow-Up and Rollover Study
This study follows children who previously participated in NF-related clinical trials to better understand long-term safety of treatments; ongoing effectiveness over time; potential late or delayed effects. Long-term follow-up studies are critical for understanding how treatments impact growth, development, and overall health.
Recently Approved & Emerging Therapies
Selumetinib (Koselugo)
The first therapy approved in Canada for pediatric NF1-associated plexiform neurofibromas. In British Columbia, it is publicly listed under Special Authority and continues to be monitored through long-term follow-up studies.
PAS-004 (Adults)
As of January 2026, new macrocyclic MEK inhibitors such as PAS-004 are in early-phase trials for adults with NF1-associated plexiform neurofibromas, with additional data expected throughout 2026.
Gene Therapy & CRISPR Research
Experimental research in Canada is increasingly examining gene-editing technologies aimed at correcting NF1, NF2-SWN, and schwannomatosis-related genetic changes. These approaches remain investigational.
Finding Clinical Trials
The most comprehensive and up-to-date information on clinical trials can be found through international trial registries.
- Visit ClinicalTrials.gov
- Search for “Neurofibromatosis”
- Use the location filter for Canada
- Review eligibility criteria, study status, and contact information
Patients are encouraged to discuss clinical trial participation with their healthcare team to determine whether a study may be appropriate.
Drug Approval Process in Canada
Understanding Drug Access
Canada’s drug approval and access system is designed to ensure that medications are:
- Safe
- Clinically effective
- Carefully evaluated for patient benefit and health-system value
This system involves multiple organizations and review stages, each with a specific role in determining whether a drug becomes available to patients and under what conditions.
To better understand how new therapies move from clinical trials to patient access, we encourage you to watch a recorded presentation by Marta Haniszewski, Market Access Manager at Alexion, AstraZeneca Rare Disease Canada. Ms. Haniszewski presented an overview of the Canadian drug approval and access process at the 2022 NF Symposium:
Additional Resource: Canadian Drug Agency
What this Means for Patients
Research advances in NF are creating new options, new knowledge, and new hope, even while many questions remain.
For patients and families, ongoing research means:
- more treatment options than ever before
- targeted therapies such as MEK inhibitors are changing how some NF-related tumours are managed. For certain individuals, these treatments may help reduce tumour growth, relieve symptoms, or delay the need for surgery or radiation.
- NF care Is becoming more personalized
Research is helping clinicians better understand:
- Why NF affects people so differently
- Which treatments may work best for specific symptoms or tumour types
- How age, genetics, and overall health influence outcomes
This knowledge supports more individualized care plans rather than one-size-fits-all approaches.
Access to Clinical Trials
Clinical trials may offer access to emerging therapies before they are widely available. Participation can also help advance knowledge that benefits the broader NF community. Not every trial is right for every person, and participation is always voluntary and carefully monitored.
Better Support for Quality of Life
NF research is not only focused on tumours. Studies increasingly explore:
- Pain management
- Mental health and emotional well-being
- Family and relationship impacts
- Daily functioning and long-term outcomes
This reflects a growing recognition that living well with NF involves more than medical treatment alone.
Realistic Hope, Not False Promises
While research progress is encouraging, it’s important to know that:
- There is currently no cure for NF
- Not all treatments work for everyone
- Many therapies are still under investigation
Research takes time, but each study builds knowledge that moves care forward.
You Are Not Alone
Behind every study are patients, families, clinicians, and researchers working together. Advocacy, participation, and shared experiences help shape the future of NF care in Canada and beyond.
If you are interested in learning more about clinical trials, treatment options, or support resources, we encourage you to speak with your healthcare team or connect with us for guidance.