Nicky Vaillancourt prays a cure will be found for Amyotrophic lateral sclerosis.
It has been two years since Nicky’s husband, Serge, was diagnosed with ALS, also known as Lou Gehrig’s disease – a terminal muscle-wasting illness. She keeps hoping and praying the disease will stop its forward march. That Serge wouldn’t have to use a wheelchair or eat through a feeding tube. That it would go into remission, “not go any further than this,” she said.
But there is no known cure for ALS yet. There’s not even an effective treatment.
Scientists are well aware that what they’ve discovered isn’t good enough. The only drug for ALS was developed almost two decades ago, according to David Taylor, director of research for ALS Canada. But the tide could be changing. Four recent advances in understanding the disease have experts believing they have a shot at slowing down the disease in the foreseeable future, Taylor said. Despite questions that still plague scientists, like what causes ALS, they now know how to conduct better clinical trials and are looking at tests to help diagnose people earlier. They’ve also learned that multiple cells are involved in the disease, giving them a larger target for treatment, and found the gene that causes the highest percentage of ALS. Research projects were revamped four years ago to study the gene with the first results coming out last year.
In a University of British Columbia lab, a research team has also been searching for a cure. Dr. Neil Cashman, Canada research chair in neurodegeneration and protein misfolding diseases at UBC, and his team believe they have not only figured out how the disease spreads, but also found the antibody to stop it. Researchers will know in three years, after a biotechnology firm is finished testing the antibody, whether it can ultimately stop the disease from progressing.
Taylor believes it’s only a matter of time before scientists and research teams find new therapies or treatments to fight ALS and that 2014 could be a year of discovery. It’s as exciting as it is devastating for ALS Canada’s head of research, who says that it all boils down to time – and time is the worst thing to ask for from someone grappling with ALS.
“It’s the most rewarding and devastating part of my job to go to support groups and talk about research … rewarding to be able to bring research to people in a way that is understandable but … devastating to know I am trying to create hope and excitement about something that won’t help most people in the room. I don’t have words for that.”
The cusp of discovery
In the global hunt to find a cure for ALS, Canada is a leader, coming in fourth for impact on the disease ahead of the United Kingdom, France and Germany, according to ALS Canada.
Momentum started in the 1980s and 1990s before the discovery of the genes that cause the fatal disease, with researchers helping to build interest in ALS among the scientific community. Research got another boost in 2000 when ALS Canada, the federal government and Muscular Dystrophy Canada banded together under the Neuromuscular Research Partnership to help fund top-scoring ALS and muscular dystrophy-related grant applications. Until then, it hadn’t been easy for the lesser-known ALS to compete against cancer and Alzheimer’s disease for government dollars, Taylor said, adding that under the partnership, labs were able to access dollars over multiple years. By the time the program ended in 2012, more than $43 million was invested into 177 research projects across Canada.
Now ALS Canada is confident the country is on the verge of discovery, and it’s thanks to work over the past six years. For a long time it was thought that ALS was only a disease of motor neurons, Taylor said.
The disease destroys motor neurons, preventing electrical impulses from travelling between the brain to the spinal cord and voluntary muscles. Once those are lost, the muscles waste away. What scientists have learned is that the disease is affected by many cell types, not just motor neurons, giving them a larger target for therapies that might be able to stop the disease.
“We’ve learned so much in the past five or six years that I think even the top people in the world really believe we have a … shot at slowing this disease down in the foreseeable future,” Taylor said.
It’s organized chaos in the UBC lab where Dr. Cashman and his team are studying neurodegenerative diseases. Bottles, beakers and petrie dishes are crammed onto shelves and spread across tables among weigh scales and sticky notes. Researchers hunker over computers and bend over tables, working on projects or grant applications for the program.
Cashman walks into the midst of it all like the master conductor.
The neurologist has devoted more than two decades of his life to studying the disease. The interest started when he was a neurology resident working at the University of Chicago’s ALS clinic. Three of his patients – all under the age of 21 – died in quick succession from the terminal illness.
For six months after their deaths, he couldn’t see any other patients and when he came back, he “wanted more than anything to do something for ALS,” he said, adding he made a lifetime commitment to battle the disease.
The challenge with ALS has been that no one knew what caused it. There have been hundreds of theories on what triggers ALS and all of them have been wrong because the treatments tied to those factors didn’t work, Cashman said.
He became interested in protein misfolding – a characteristic of prion diseases like Mad Cow – that sees mutated proteins infect healthy ones like a falling line of dominos. He wondered if ALS could act the same way and more than 15 years after asking the question, his team has found the experimental proof linking the way prion diseases are transmitted between cells and ALS. They have also found an antibody that appears to stop the spread.
Dr. Les Grad, a research associate at UBC, said people didn’t previously believe the same mechanism in prion diseases could account for what was happening with ALS but the new information at UBC shows there’s a good chance it’s a large cause of the disease – or at the very least, shows how it progresses.
“It’s like anything else – the better you understand it, the better you can stop it. The better you can take it down. I think on that level people understand this is something new, this is a … side of the disease or side of the mechanism that no one has really looked at,” he said.
Everything else is looking at protecting the nervous system as a whole rather than stopping the disease and it’s not helping, Grad said.
“I think what we are doing is trying to get to the heart of it.”
This is the third article in a four-part series on ALS, which includes Serge’s Story; Care for ALS patients often falls to spouse; Vaillancourt earns award for work for ALS awareness.