In what is being called a world’s first, a Canadian medical team has introduced a gene into a Calgary man with the hopes of combating a rare and life-threatening genetic disorder.

Preliminary results, doctors say, are promising, leading to a possible breakthrough in genetic disease treatment in humans.

According to a 2013 statement from Alberta Health Services, approximately 400 Canadians have Fabry disease. The inherited enzyme deficiency can shorten the lifespan of people who have it by as much as 40 years.

A team led by Dr. Aneal Khan, a medical geneticist at the University of Calgary and the Alberta Children’s Hospital, treated Darren Bidulka, a 48-year-old man who has a genetic disorder known as Fabry disease.

Patients with the genetic disease are unable to produce the enzyme that breaks down a fatty substance known as Gb3. When it builds up, it can severely damage the kidneys, heart and brain. Due to his condition, Bidulka undergoes two hours of enzyme-replacement therapy every two weeks.

Bildulka’s gene therapy began when his medical team harvested his bone marrow. The stem cells were sent to the Toronto office of Dr. Jeffrey Medin, a specialist in gene transfer. His team took the cells and using a modified virus called a lentivirus, inserted a “working” copy of the malfunctioning gene into the stem cells.

The idea is that the “corrected functional” gene will cause the cells to produce the correct enzyme.

“We injected the cells back into the patient, and the patient’s immune system has recovered, the patient is back on their regular enzyme-replacement therapy as well,” Dr. Khan told CTV Calgary.

Aware of the risk involved with a new treatment method, Bidulka said he was initially cautious.

“I looked at the risk, I looked at the rewards, and ultimately decided it was the right thing for me to do,” said Bidulka. “Initially there was some hesitancy to be the first in the world to do something.”

The therapy isn’t meant to cure Bidulka’s condition; at this point, researchers want to know if it’s safe to perform on humans and if they are able to successfully insert the gene.

Preliminary results, Dr. Khan said, are promising.

“We did some blood work to see if the copy of the gene we inserted made it to the patient and the bloodwork shows that it is in the blood of the patient,” Dr. Khan said.

Researchers will monitor Bidulka for the next five years, with the hope that this is a new era for treatment in rare diseases.

“We’re working towards a cure,” Dr. Khan said. “I don’t think we’re there yet.”

Bidulka said he hopes that ultimately something is “learned” from the process “that benefits people with Fabry Disease and other people with genetic disorders.”

With files from CTV Calgary