Revolutionary gene therapy gives new lease on life

Clinical Trials Unit performs first-in-Canada procedure at Foothills Medical Centre

By Blain Fairbairn

Groundbreaking research is offering new hope to people living with serious illness thanks to a joint AHS and University of Calgary Cumming School of Medicine (CSM) initiative in the new Clinical Trials Unit (CTU) at the Foothills Medical Centre (FMC).

The CTU’s first study participant, Josh McQuillin of Prince George, B.C., is the first Canadian in history to receive gene replacement therapy by a direct intravenous injection to treat a genetic disease. Only three other people in the world have undergone similar treatment. “I lived a normal life up until I was 12 and then got really, really sick,” says the 30-year-old. “The doctors had no idea what was wrong with me, but they say I almost died.”

McQuillin was diagnosed with a Urea Cycle Disorder (UCD), a genetic disease that causes ammonia to build up in the body, and can lead to brain damage or death. Ammonia is naturally produced as the body metabolizes protein, but for those with a UCD the process of converting ammonia to urea (the harmless substance giving urine its yellow colour) doesn’t work properly.

The condition required McQuillin to take up to 36 pills a day, adhere to a strict diet and limit travel and activities so he was always close to a hospital. Simple things like missing a meal or eating too much protein could result in a life-threatening scenario and lengthy hospital stays.

McQuillin received experimental gene replacement therapy at the CTU. It gave him a working copy of the gene he needed, sending it directly to his liver via intravenous injection. His liver can now process ammonia effectively, which has given McQuillin a new lease on life.

“It’s like night and day,” he says. “My exercise has changed, my sleep patterns have changed, my diet has changed — it’s really incredible.”

Dr. Aneal Khan, the study lead and an associate professor in the departments of Medical Genetics and Paediatrics at the CSM, says gene therapy holds tremendous promise as an effective treatment for a number of disorders, and offers significant benefits to patients and the healthcare system.

“With gene therapy we use modified viruses to add new genes to a patient’s cells so that they have a working copy of the gene,” says Khan, who’s also a member of the CSM’s Alberta Children’s Hospital Research Institute. “This is highly personalized, precision medicine that can drastically improve the quality of life for people born with a genetic abnormality.”

Many patients with genetic disorders like McQuillin must take expensive medications every day for the rest of their lives and require frequent hospitalization with numerous complications, Khan adds. The estimated cost of treating UCD is about $1 million per year per patient.

The CTU is a self-sustaining entity funded through research programs with industry and government sponsors. It is unique in that it’s housed in the Foothills Medical Centre’s Intensive Care Unit (ICU), and managed by the hospital’s critical care team. This allows patients with rare or serious disorders who may require immediate medical attention to safely participate in research.

Dr. Christopher (Chip) Doig, a medical director in intensive care for Alberta Health Services’ Calgary Zone, says the CTU is powerful example of how academic and clinical partnerships open up new options for patients and opportunities for researchers to investigate new therapies for a broad spectrum of disorders.

“As a hospital ICU, we’re not going out and actively looking for studies,” he says. “What we’re doing is making the opportunities available to world-class researchers like Dr. Khan and his team to benefit patients. Although the CTU is new, many researchers in a number of areas have expressed interest and excitement about its potential. “Our hope is to see more trials that could involve gene therapy and personalized medicine in everything from cardiac disease to cancer.”

Following his treatment, McQuillin is off his medication and no longer needs to think about what, or when, he has to eat — or where he can go to ensure a hospital is nearby. “I was told not to travel to the developing world because I couldn’t be sure I’d get the treatment I’d need if I got sick,” he says. “Even camping for a couple days was an issue because I might be too far from a hospital. “Now I can do whatever I want without worrying about ‘maybe I’ll feel okay’, or ‘maybe I won’t’. I feel like I’m back to normal.”

 

Blain Fairbairn is a Senior Communications Advisor at Alberta Health Services.