Dalhousie University lab getting $4.5M to test cures for 3 childhood diseases

The potential treatment options for three rare, inherited childhood diseases got a major shot in the arm on Tuesday.

The Zebrafish Core Facility at Dalhousie Universityin Halifax will receive $4.5 million to move to first-in-human trials for possible cures for theseso-calledorphan diseases, which typicallyaren't a priority because drug companies generally focus on common conditions.

The work will focus on familial exudative vitreoretinopathy (FEVR, or childhood blinding), the inherited form of Parkinson's diseaseand muscular dystrophies.

Dr. Christopher McMaster, a professor and head of Dalhousie's pharmacology department, said the announcement is a major step forward for the lab, whichfocuses on rare diseases in part because the patient population is small enough that clinical trials can be done on academic budgets. They believe they can find cures.

Favourable test results in trials so far

The funding comes from the Atlantic Canada Opportunities Agency ($3 million), Dalhousie's medical research foundation ($500,000) and Halifax-based biotech company AGADA Biosciences ($1 million).

The three diseases in question occur in one in 5,000 to one in 10,000 babies. Tuesday's announcement is 10 years in the making. Tests so far have shown positive responses in zebrafish and mice.

"We can actually now move from what we think is a candidate drug that could treat these rare diseases and actually satisfy all the requirements of the regulatory agencies to then perform a first-in-human trial to actually see if these particular drugs can actually cure the disease we actually think they can cure, since we can already cure zebrafish and cure mice."

Dedicated to the cause

McMaster said the choice of diseases is based on having clinician scientists at local hospitals who are experts in the diseases and scientifically motivated to move from diagnosis to treatment.

"Fortunately,there [are]a couple of clinician scientists that have made it their mission in life to try and move from the patient condition to improving the patient condition by discovering new therapies for their patients."

The first focus, a potential cure for FEVR, will be led by Dr. Johane Robitaille and Dr. Jason Berman, both of whom work out of the IWK Health Centre and are professors at Dalhousie.

'Pretty incredible, really'

Christine Gentleman knows Robitaille well. Both of her sons, Nick, 14, and Matthew, 11, have FEVR, a condition from birth that causes the retina to deteriorate by scarring.

Having never heard of the condition until Nick was born, Gentleman and her husband did what most parents in their position would do they turned to the internet. It was during their research they became thankful for living here.

"There was just two people, two doctors in North America,whohad done any research on it and one was at Johns Hopkins University and one was at the IWK. So pretty incredible, really."

Tuesday's announcement is exciting, said Gentleman.

"Maybe it won't have a big impact on our boys' lives, as far as their vision, but maybe for their children," she said.

"Just to hear doctors talk about our genetic condition with hope is very encouraging."

Rare diseases aren't that rare

There is some irony to rare diseases being classified as rare. Taking all of them into account, McMaster said one in 15 babies born in Canada will be born with a rare disease. Research and finding a cure can actually be easier than for other diseases, he said, because they all have a common link: a single mistake in a single gene.

Once the clinical trial for the FEVR treatment begins, it will take about three months to know if it works. (Evaluation is based on how long it takes a disease to manifest or, if it's already manifested, how long it takes to reverse or stop the impacts.) Assuming it works, "a three-month treatment will allow these children to have a lifetime of normal vision," said McMaster.

"It's a glimmer of hope that looks like it's probably going to work, but, of course, we've still got to make sure that it is safe."

Aiming to be the go-to site in Canada

If things go well, McMaster said he anticipates in three or four years the orphan drug discovery and development hub at Dalhousie will become the best place in Canada and one of the best sites in the world for such research and clinical work.

"It's very exciting. We're aiming big. Why not?"