McGill research offers hope for curing genetic disease that hits Quebec children

“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.

Stephane Blais, The Canadian Press

Note to readers: This is a corrected story. An earlier version used an incorrect name for the hospital.

by Canadian Press

McGill research offers hope for curing genetic disease that hits Quebec children

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