Children with a rare genetic disease that is particularly prevalent among Quebecers could see their lives changed thanks to a new treatment developed by researchers at the McGill University Health Centre.
The McGill team is leading North American efforts to develop a drug for nephropathic cystinosis, which is 10 times more prevalent in Quebec than elsewhere in the world. Without treatment, children with the disorder require a kidney transplant, and few survive beyond the age of 30.
Researchers say the disease was brought to Quebec about 200 years ago by an immigrant Irish family.
Sophie Laferriere, whose 9-year-old son Nolan has the disease, described in an interview the toll it has taken.
“From the age of 5 months, Nolan stopped growing .... He didn’t try to move around,” she said. “At around 6 months, he was eating very little and continuously vomiting.”
It was soon afterwards that physicians at the Montreal Children’s Hospital, part of the McGill centre, diagnosed nephropathic cystinosis. It is caused by what are known as “nonsense mutations,” an error in the gene code that causes cells to stop producing a protein.
That in turn leads to the build-up of an amino acid and kidney deterioration.
From the age of 8 months to 4 years, Nolan had to be fed through a tube. Today, the boy is able to feed himself and is in Grade 3. But his parents and school officials have to inject him with 150 doses a week of electrolyte medication.
It is almost a full-time job for his parents, who have not had an uninterrupted night of sleep for years.
“His kidneys systematically expel the vitamins he ingests, so we have to inject electrolytes to avoid deficiencies, in addition to injections of drugs to slow the disease,” Laferriere said.
Nolan will now be part of a clinical trial led by Dr. Paul Goodyer, a pediatric nephrologist at the Montreal Children’s Hospital. Goodyer said the drug being tested tricks the cell into overlooking the mistake in the gene code so protein production continues. He said the non-toxic drug, developed with a $2 million contribution from Quebec’s genomics research agency, could provide a cure.
“My hope is that he can live as long as you and me,” Goodyer said of Nolan.