Clinical trials can be an exciting opportunity for individuals affected with neurofibromatosis (NF).

A clinical trial is a research study in which volunteers receive investigational treatments under the supervision of a physician and other research professionals. The treatments might be drugs, supplements, medical devices and equipment, or even things like behavioural therapy.

A clinical trial provides an opportunity to access new research treatments before they are readily available, and help others by participating in vital medical research.

Examples of potential clinical trials in NF might involve the testing of new drugs to slow or stop the growth of neurofibromatosis or meningiomas. They might be comparing different methods for neurofibroma or glioma removal, or new treatments for children with pseudarthrosis. Almost all treatments for all medical conditions have gone through clinical trials.

In the case of NF, sometimes the treatment has been used before with other disorders, but not specifically for problems associated with NF. Often times, the treatments being tested in the clinical trial may have never been tried in adults or children with the specific dosage, frequency, or method of administration that is being proposed. Sometimes, there is a new treatment that has gone through early trials and is now ready for study in people with NF.

You can find information about clinical trials recruiting participants in Canada here.

Clinical trials for new treatments are always tested through several steps called phases.

Each phase has a different purpose but builds on the previous stage and helps researchers answer specific questions. The phases are designed to determine safety, effectiveness and appropriate dosing of the drug. This allows doctors to obtain reliable information about the drug and, at the same time, protect the patient. The phases for clinical trials for NF are:

Phase I trials are often the first time a new therapy is tested in people. This phase is used to see how safe a treatment is, what the best dose is and identify side effects. There trials typically involve a small number of patients. This phase lasts days to weeks.

Phase II trials continue to test the safety of a new drug, and evaluate how well the new treatment works. It lasts weeks to months.

Phase III trials tests a new drug, new combination of drugs, or a new surgical procedure in comparison to current therapy. Patients will usually be assigned to either the current therapy group or the new treatment group at random. These trials often involve a large number of patient and may involve physicians at many different medical centers. This phase can last several years.

Phase IV trials are done after the drug is approved and is on the market. They gather information on things like the best way to use a drug, and the long-term benefits and risks. These trials look for side effects that were not seen in earlier trials and may also study how well a new treatment works over a long period of time. Phase IV clinical trials may include thousands of people.

Who is Eligible?
Having neurofibromatosis doesn’t automatically make you eligible for a clinical trial. Each clinical trial will have specific guidelines about who and does not quality. The criteria is not intended to exclude anyone, but rather ensure the safely of the participants and ensure the results form the study to be accurate and useful.

The decision on whether you should join a clinical trial is an important step in your health care and an option to discuss with your doctor.

If you are interested in participating in a clinical trial, you will want to make an informed decision. Here are some questions to ask both your physician and the clinical trial staff before participating:

  • What is the purpose of the study?
  • Why do researchers believe this experimental medicine (treatment) may work for NF?
  • What are the risks associated with this experimental medicine?
  • How do the possible risks, side effects and benefits compare to my current treatment?
  • How will the study benefit me/ and/or others?
  • Who is sponsoring the trial?
  • Will I be reimbursed for expenses associated with the trial?
  • What tests will be given during the trial?
  • What side effects might occur, and what do I do if I have any?
  • How long will the trial last? How much time will each visit take?
  • Where and when will the testing occur?
  • How will I know that the experimental medicine is working?
  • Will I be informed of the results?
  • Once the trial is complete will I continue on the same treatment if it worked for me?
  • How will you keep my doctor informed while I am participating in the trial?
  • Once the trial is complete, what happens to the information that was collected on me? Where is it stored and for how long?

It is important not to rush into a clinical trial without being fulling informed about it. The people who are running the trial must take the time to answer all your questions. Only then can you make the best decision for yourself or your family member.

One of the significant issues about clinical trials involving children is that they are not usually making their own decisions to participate. Parents or guardians are making the decisions for them, however, the child should be able to assent (or decline) the trial to the best of his or her understanding. The rules around consent are therefore more strict when the clinical trial involves children. Of course, none of us can see into the future, but as a parent, we can agonize over whether or not to put our child into a clinical trial. In this situation, in addition to having your questions answered by trial staff, it is important to discuss participation with a medical professional who is unaffiliated with the trial, such as your family doctor or pediatrician.

View the list of NF related clinical trials in British Columbia below:

Type of Study: To study how stress affects the relationship between parents who have a child with cancer or Neurofibromatosis Type 1 (NF1).
Clinical Trials.gov: https://clinicaltrials.gov/ct2/show/NCT01702922
Status: Recruiting
Duration: Three months
Population: Parents of a child (between 1 and 24 years of age) who has been diagnosed with cancer or NF1. Participants must have been in a partnership at the time the child was diagnosed with cancer or NF1. At least one of the parents must be a biological or legal parent of the child.
Treatment: Treatment will not be provided as part of this study.
Age: 18+ years
Sites and Contacts:
Alberta’s Children’s Hospital
Lori Wiener, Ph.D.- lori.wiener@nih.gov

Type of Study: The purpose of this study is to treat adults with NF1 who have insufficient serum vitamin D levels with 2 different doses of vitamin D supplementation to determine if vitamin D supplementation ameliorates the usual loss of bone mineral density over 2 years.
Clinical Trials.gov: https://clinicaltrials.gov/ct2/show/NCT01968590
Status: Recruiting
Duration: 504 days
Population: All individuals with NF1 (neurofibromatosis type 1), based on NIH
diagnostic criteria,
Age: 25 Years to 40 Years
Sites and Contacts:
British Columbia
University of British Columbia
Patricia Birch, RN - birch@interchange.ubc.ca

Type of Study: This is a phase 1/2, open-label, interventional clinical trial that will study the response rate of pediatric glioma and plexiform neurofibroma (PN) to oral administration of trametinib.
Clinical Trials.gov: https://clinicaltrials.gov/ct2/show/study/NCT03363217
Status: Recruiting
Duration: 504 days
Population: Participants must belong to one of the following groups to be
• Group 1: NF1 with Progressing/Refractory LGG
• Group 2: NF1 with Progressing/Refractory PN
• Group 3: Progressing/Refractory LGG with KIAA1549-BRAF fusion
• Group 4: Progressing/Refractory CNS Glioma with activation of the
MAPK/ERK pathway who do not meet criteria of other study groups

Age: 1 Month to 25 Years
Sites and Contacts:

British Columbia
Children and Women's Health Centre of British Colombia
Juliette Hukin, MD - jhukin@cw.bc.ca

Alberta Children's Hospital
Lucie Lafay-Cousin- lucie.lafay-cousin@ahs.ca

For a full list of clinical trials visit: www.clinicaltrials.gov
ClinicalTrials.gov provides patients, their families and the public easy and free access to information on clinical trials.