A regina’s mother who was one of the first patients with ELA to evaluate a new treatment is now celebrating her accelerated approval in Canada for adults with an ultra rare form of the disease.
Paula Trefiak’s remarkable experience in Tofersen, a medicine that is sold under the Qalsody brand, reflects why researchers call drugs an advance.
“My life has changed completely. I’m really anxious for retirement now. I never thought I would ever come to retirement,” said Trefiak, 43, to CBC News.
People diagnosed with amyotrophic lateral sclerosis (ELA), a fatal neurodegenerative disorder also known as Lou Gehrig’s disease, have a life expectancy of two to five years. They are trapped in their body, losing the ability to move, speak, chew and finally breathe.
Health Canada confirms that he has granted the conditional approval to Qalsody to treat adults with ELA in cases linked to a mutation in the overexide gene DYCMUTASA 1 (SOD1).
Ottawa accelerated access to the medication under a program that acknowledges that it would be not very ethical to retain patients, but the biogen pharmaceutical company must complete additional clinical trials.
The drug is not yet covered by public or private drug programs.
Family history
Trefiak, 43, realized that he had a good opportunity to develop ELA when his father was diagnosed with the disease in 2001. He can count 26 people in his family who have died from the disease in his life.
Most ELA cases are sporadic, but a small fraction is genetic. About three percent of all cases of ALS are linked to a mutation in the SOD1 gene.
Despite his family history, Trefiak said doctors were reluctant to send it for genetic tests when he was just over 20 years old. She tells a doctor saying: “You are too young to have it. And there is no cure. There is no treatment. So it is better not to find out.”
For 2010, his muscles began to calm for hours and Trefiak felt sure he had inherited the gene variant. She was diagnosed with ELA in February 2016, at the age of 34.
His forecast was terrible. There were no available treatments.
“It was absolutely devastating. I had three young children and knowing that I was going to lose my ability to hug them, kiss them and that they were going to lose their childhood becoming my caregivers,” he said.
Nine months later, he received a phone call that gave him some hope. She was invited to the Neuro Hospital in Montreal to participate in a clinical trial designed for people with ELA caused by a mutation in the SOD1 gene.
She believes that she received the placebo in that clinical trial, but began the complete dose of 100 mg in early 2018, during the open label of the study.
By then, involuntary muscle contractions on their face and lip were causing baboo and stuttering. He was too weak to continue his work as an instructor for physical conditioning and emergency medical respondent, and he had to give up his education to become a toothpire because he could not sustain the instruments for longer.
In nine months of taking the medication, many of the symptoms were reversed.
Clinical trials
Dr. Angela Genge is a neurologist, director of the Als Center of Excellent in the Neuro in Montreal and principal researcher in clinical trials.
She said that the medicine actually modifies the disease itself and slows down, even stops, progression.
“He is able to stop the disease on his route in a significant number of patients or people who live with ELA,” said Genge. “[Qalsody] It is actually a great advance. “
Genge points out the fact that Paula Trefiak is still alive.
“People are not dying that they are successfully in treatment,” said the neurologist, emphasizing that the medicine is not a cure and that the benefits only continue while the medication is taken.
Today, Trefiak runs and dances.
“I am a ballet dancer. I couldn’t even get up more and now I can hold on to a full body weight on one foot and I’m back using my three -inch heels again,” he said.
Regina Als, Paula Trefiak, participated in clinical trials for a medication that has slowed the progression of the disease and reversed most of her symptoms.
Exciting possibilities
Dr. Genge said that this treatment is already inspiring other research on therapies for ELA forms not caused by SOD1, as well as the impact of the medication on people who have genetic mutation but have not yet shown symptoms.
“Therefore, we catch people at the beginning, so they actually develop anything significant and we can treat them immediately,” said Genge, pointing out that blood tests can reveal when the disease is activated.
That is also exciting for Trefiak. She has three children who may have inherited the genetic mutation. This medicine could prevent them from developing ELA symptoms and helping them live a long life.
