Research: Hope for Nolan

“Nephropathic cystinosis” – the words were new to Nolan’s parents. It’s a rare genetic disorder, found ten times more often in Quebec than elsewhere in the world.

“At six months, we realized something wasn’t right. Our baby wasn’t gaining any weight. We brought him to the Children’s and straightaway they recognized the disease,” says Nolan’s mother, Sophie.

Nolan with Sophie and Dr. Paul GoodyearWithout treatment, affected children will require a kidney transplant by age 10. Few will survive beyond age thirty. Even currently available treatment may only add a few years to a patient’s life expectancy. But children like Nolan could soon see their lives changed thanks to a team at the Research Institute of the McGill University Health Centre (RI-MUHC), led by pediatric nephrologist Dr. Paul Goodyer.

Dr. Goodyer, an attending physician at the Montreal Children’s Hospital, is at the forefront of North American efforts to develop the drug, ELX-02, for nephropathic cystinosis.

Research to treat and potentially cure the disorder has the support of Montreal Children’s Hospital donors and recently received major funding through a national contest led by Genome Canada.

Dr. Goodyer says the novel drug is designed to overcome a mistake in the gene code that leads to organ deterioration from a massive buildup of the amino acid cysteine.

“If successful, this non-toxic drug will have huge implications for many of the 600 other genetic diseases that affect humans, including cancers. It’s expected clinical trials will begin next year.”

In the meantime, Nolan’s parents continue their constant vigil, watching for any change in their son, now aged nine. Sophie says caring for Nolan is almost a full-time job. “Dr. Goodyer’s research gives us real hope.”



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