The MUHC has been given a $2 million grant to help fight a rare kidney disease.
Cystinosis causes cysteine, an amino acid, to accumulate in different organs.
Crystals build up and can eventually lead to organ failure.
The disease is usually diagnosed in children under the age of two, and could lead to end stage kidney failure at around age nine.
Montreal researchers have developed a drug that they believe may cure the disease, although the medication is not yet being tested on humans..
“We’re not really at the final formulation of this medication,” said Paul Goodyer of the MUHC.
"When we start the trial, it’ll be a shot under the skin twice a week.”
Funding for the research was provided by Genome Quebec and Genome Canada.
Only 50 to 100 people in Quebec are affected by the disease, and approximately 1,000 in North America and Europe overall.
Sophie Laferriere’s eight-year-old son Nolan was diagnosed with Cystinosis when he was eight months old.
To manage it, Nolan is in and out of hospital repeatedly, takes medication several times a day, and drinks lots of water.
“There aren’t groups, foundations, or associations that exist for this illness,” said Sophie Laferriere.
Goodyer is confident that the drug can bring positive change.
“It should allow a long life,” he said. “It should prevent deterioration of the organs if given early enough, and possibly it can reverse some of the injuries.”
