CALGARY (660 NEWS) – A new gene therapy is being called a ground-breaker for those who suffer from a rare genetic disease.
UCD is a condition where ammonia builds up in the body and can lead to brain damage or death.
Dr. Aneal Khan is an Associate Professor of Medical Genetics and Paediatrics and explains more about what those with UCD deal with on a daily basis.
“They have to stay on medications and a special diet that limits certain amounts of protein. They can still get sick from infections so they’re always on the edge in terms of trying to stay healthy.”
Those with UCD are also required to limit travel and activity so they are always close to a hospital.
The result of the research from the two groups led to the first successful gene replacement therapy for UCD in Canada.
The patient who took part in the clinical trial is 30-year-old Josh McQuillin from Prince George.
“I lived a normal life up until I was 12 and then got really, really sick. The doctors had no idea what was wrong with me but they say I almost died.”
As a result of the therapy, Dr. Khan said McQuillin is doing much better.
“The patient has had normal ammonia (levels) now for quite some time and is not on any protein restriction anymore and is actually not taking the medications the ammonia levels anymore. He’s living his life as if the urea cycle is not there.”
Dr. Khan says they will continue to monitor McQuillin and that this is only a clinical trial. He noted others who had participated in these trials internationally didn’t respond to the replacement therapy.
Nonetheless, Dr. Khan is hopeful this successful case will pave the way for others in the future.
“If this technology continues to work or gets improvements with it, I can imagine that we one day may be able to treat very young children and have them avoid going through years of instability.”