Clinical trials are experiments that test whether a new intervention, such as a drug or surgery, will work in people. The main goal of clinical trials is to determine if the new intervention is safe and effective. This is a next step once experiments in animal models prove to show potential for managing or curing a disease. Participants in these experiments might be unaware, that there is a possibility of only receiving a placebo (a fake intervention), rather than the new experimental intervention. Clinical trial participants need to understand that they are research participants and that investigators are evaluating if the intervention will be helpful, harmful, or no different than other available alternatives on the Canadian market. It takes many years of testing from the time a new drug or medical treatment is created to animal and human testing for risk and efficacy to getting the approval by Health Canada.for use and sale. 

Phase 0
Exploratory study with NO therapeutic goals

Phase 1
A study to evaluate SAFETY. Sometimes these trials are conducted in healthy volunteers. For rare diseases and highly risky interventions, such as gene and stem cell therapies, these trials are conducted in patients with the condition being studied.

Phase 2
A study that gathers PRELIMINARY data on effectiveness in the patient population.

Phase 3
Usually a larger study to assess safety and effectiveness in different patient populations. It usually compares the new intervention to current treatments or a placebo. A placebo is a fake intervention. Participants and the doctors running the trial may not know if participants are receiving the new intervention or the alternative (control). This is known as a randomized controlled trial (RCT).

Phase 4 
Monitoring of safety and efficacy after the intervention has been approved for use in patients by a regulator, such as Health Canada.

One of the difficulties in finding treatments and cures for people with Aniridia is that there are many different genetic mutations, not just the PAX6 gene that can cause the same aniridic condition.  Further complicating the situation is that each type of mutation may be a result a multitude of different combinations.

Ataluren – Specific to patients with a nonsense mutation on PAX6

A possible pharmacological treatment for patients with nonsense mutations is being investigated at UBC by Dr. Gregory-Evans. This treatment is approaching clinical trials and they are currently seeking Canadians with the Nonsense mutation to start the therapy. For more information and links to register please click here

For more details of the clinical trial for “Start Therapy” using Ataluren on aniridia patients, likes methodology and location of current phase 2 trials conducted in Canada and U.S.:

Gene Therapy – For other mutation types

Gene therapy could hold the key for all Aniridia patients. Gene therapy is basically editing a persons DNA just like you would a Microsoft Word document.  The technology to cut out a defective code and insert a corrected code does exist and is being used to treat other disorder. The therapies would likely be difficult to produce considering that there are a variety of different mutations that cause the same disorder.  For more information and links please click here

A Ted Talk presentation on the new CRISPR-Cas9 technology by Geneticist Jennifer Doudna who co-invented a groundbreaking new technology for editing genes called CRISPR-Cas9. The tool allows scientists to make precise edits to DNA strands, which could lead to treatments for genetic diseases and its potential in gene editing for rare diseases:

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