An Alberta carpenter who lost his vision 15 years ago can once again read the numbers on his tape measure thanks to an experimental drug with a compelling backstory.
For the first time in 15 years, Alberta carpenter Dean Scott can read
A northern Alberta carpenter with a genetic condition that causes blindness says he has partially regained his sight after receiving experimental drug treatments in the United States. Three months after he started participating in a clinical trial for the drug sepofarsen, made by Dutch company ProQR Therapeutics, Dean Scott realised he could read again. ProQR was founded in 2012 by a father seeking to develop RNA therapies as a treatment for his son’s cystic fibrosis. The company has since branched out to target a wide arrange of rare genetic conditions, including several forms of blindness and skin diseases.
ProQR Therapeutics plans to make the drug available to patients in the U.S. in 2022
As he sat in a mall in Iowa City, Iowa, holding his wife’s purse while she shopped, Dean Scott noticed the sign on an Old Navy store. The letters were still fuzzy, but for the first time in years, he could make out their shape and colour.
And as he scanned around the mall, instead of just light and shadows, he could see more signs. "Even walking through airports now, I can see the gate numbers," Scott said last month in an interview with CBC’s Radio Active.
Scott, who lives in Spirit River, was born with a form of Leber’s congenital amaurosis. The condition affects the retina, causing progressive vision loss. By age 30, he could no longer read or make out the big E on an eye chart.
Dr. Ian MacDonald, a University of Alberta ophthalmologist and clinical geneticist who had diagnosed Scott’s condition, heard about a clinical trial and put him in touch with one of the research sites, in Iowa City.
Sepofarsen is a ribonucleic acid (RNA) therapy that is injected into the eye and designed to repair the genetic defect that causes Leber’s congenital amaurosis. If successful, the drug could halt the disease’s progression and reverse some of its effects, including vision loss.
Results of the trial’s first phases, involving 10 patients, showed no serious negative effects and improved eyesight in patients after three months.
Scott is participating in the trial’s next phases, which began last spring. In this stage, a larger number of patients receive the treatment and the drug is further tested for safety and effectiveness. Drugs can generally be approved — or rejected — after the third phase of a clinical trial, but their long-term effects still need to be studied.
ProQR Therapeutics, the Netherlands-based company behind the sepofarsen trials, plans to make the drug available to patients in the U.S. in 2022. Health Canada would have to review it before it could become available in Canada.
"I have every reason to think that’s going to happen," said MacDonald, who used the word "outstanding" to describe the progress of his patient.
For Scott, improved vision has a big professional benefit: better carpentry. His wife had become accustomed to following him as he paints and filling in the spots he misses. Now that he can read a tape measure again, "things are straighter, more level," he said.
Source: CBC
A personal quest against cystic fibrosis spawned more therapies
ProQR is the result of a personal quest against cystic fibrosis started by its CEO, Daniel de Boer.
de Boer founded ProQR in 2012 following a strong determination to improve the lives of people with cystic fibrosis. “We started ProQR Therapeutics for a very personal reason.” He told Labiotech. “Eight years ago, my son was born, and diagnosed with cystic fibrosis. At that time, I was a serial entrepreneur in IT. I decided to make a career switch and start a company to develop drugs for cystic fibrosis, but then also for other genetic diseases.”
You could be forgiven for thinking that a person with no background in biotech might find it difficult to succeed, but de Boer is not the only parent to have so far successfully undertaken this endeavour.
In France, Karen Aiach crested Lysogene to treat her daughter’s rare genetic disorder, while in the US the story of John Crawley and his company Amicus Therapeutics, founded to help his two children’s diagnosis, went so far as to inspire a movie.
The determination and motivation of these parents seem to overdrive any challenges they might have faced because of their limited experience.
De Boer set out to create a business plan for his new company and found out that there was already quite a lot of activity, especially in approaches using small molecules or gene therapy. “We decided that we really wanted to add something new to the space, and take a completely novel approach.” So he started looking for a new technology, and he found it. “Around that time, I met for the first time with some people in biotech, including the CEO at Alnylam, John Maraganore, and we talked about how they used RNA approaches for genetic diseases,” says de Boer.
Today, RNA technology is being tested in multiple rare diseases caused by genetic mutations, such as hemophilia, porphyria, or iron overload disorders. “I thought, ‘if you can do that for all these other genetic diseases, why not for cystic fibrosis?’” says de Boer. “With that in mind, we started ProQR.”
Today, ProQR has two programs already being tested in the clinic, and a third that is about to. “We’ve really built it out from that original plan to target genetic diseases at the RNA level.”
According to de Boer, this technology could be potentially used in over 20,000 different disease-causing mutations and have certain advantages over the popular CRISPR-Cas9 gene editing.
ProQR Therapeutics is dedicated to changing lives through the creation of transformative RNA medicines for the treatment of severe genetic rare diseases such as Leber’s congenital amaurosis 10, Usher syndrome and autosomal dominant retinitis pigmentosa. Based on the unique proprietary RNA repair platform technologies, they are growing their pipeline with patients and their loved ones in mind
For more information on ProQR, their therapies and ongoing clinical trials, click here.
Source: Labiotech.eu
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