From shadows to sight: Blind Alberta man regains some vision with experimental drug

Sepofarsen is a drug designed to repair the genetic defect that causes Leber’s congenital amaurosis.

For the first time in 15 years, Spirit River carpenter Dean Scott can read signs

Dean Scott, a carpenter in Spirit River, is participating in a clinical trial for a drug that could improve vision in some patients with Leber's congenital amaurosis. (Dean Scott)

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, Dean Scott realized he could read again.

As he sat in a mall in Iowa City, Iowa, holding his wife's purse while she shopped, he 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 Monday 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.

Trial participants are divided into three groups: two receive the treatment (in different doses) and the third receives a sham procedure, meaning the researchers simulate an injection without actually giving patients the drug.

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 is 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.


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