McGill research offers hope for curing genetic disease

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.

Sophie Laferrière, whose nineyear-old son Nolan has the disease, described the toll it has taken.

“From the age of five months, Nolan stopped growing ... He didn’t try to move around,” she said. “At around six months, he was eating very little and continuously vomiting.”

Physicians at Montreal Children’s Hospital, part of the McGill centre, diagnosed nephropathic cystinosis. It is caused by “nonsense mutations,” an error in the gene code that causes cells to stop producing a protein. That leads to the buildup of an amino acid and kidney deterioration.

From the age of eight months to four years, Nolan had to be fed through a tube. Today, the boy feeds himself and is in Grade 3. But his parents and school officials have to inject him with 150 doses a week of electrolyte medication.

Nolan will be part of a clinical trial led by Dr. Paul Goodyer, a pediatric nephrologist at 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 drug, developed with a $2-million contribution from Quebec’s genomics research agency, could provide a cure.