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Research on genetic heart condition could save young lives

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Dr. Jason Roberts has found a drug that has the potential to prevent the onset of arrhythmogenic right ventricular cardiomyopathy (ARVC) – a genetic heart condition that causes sudden death in young adults.

Leading-edge research by Hamilton Health Sciences’ (HHS) Dr. Jason Roberts has the potential to revolutionize care for patients impacted by arrhythmogenic right ventricular cardiomyopathy (ARVC), a potentially fatal genetic condition affecting the heart’s muscle tissue.

As an HHS cardiac electrophysiologist, Roberts specializes in treating cardiac problems involving electrical activity and arrhythmia.

Roberts was one of four researchers honoured at the 2023 Hamilton Health Sciences Foundation Gala last month celebrating research and innovation at HHS. Each of the recipients — which also included Drs. Peter Gross, Guillaume Paré and Mark Tarnopolsky — received a $40,000 grant to take their innovative commercialization research projects to the next level.

Preventing sudden death

Arrhythmogenic right ventricular cardiomyopathy often presents itself in young adults in their late teens to early 20s. It can cause dangerously fast heartbeats that can result in fainting and even sudden death, especially in young athletes since exercise worsens the condition.

“If there was a drug that could prevent the onset of ARVC, then patients may not need the implantable cardiac defibrillator.”

Currently, the standard treatment to prevent sudden death is to insert an implantable cardiac defibrillator into the heart, which can deliver shocks when these dangerously fast heartbeats occur. These shocks can be quite frequent and painful, plus they don’t prevent damage to muscle tissue caused by the disease.

As a result, people with ARVC must limit physical activity, which can cause other health issues, especially as they age. Through their research, Roberts and his team at the Population Health Research Institute of HHS and McMaster University, are working to find a more effective treatment option.

“For those who have one of the genes that cause ARVC, it doesn’t mean this condition has to develop,” says Roberts. “If there was a drug that could prevent the onset of ARVC, then patients may not need the implantable cardiac defibrillator.”

Promising clinical trial

Research involving Roberts’s team has found that a small molecule called tideglusib was successful at preventing dangerously fast heartbeats and heart muscle damage caused by ARVC in mice. This molecule has already been developed into a drug for another purpose. While it turned out not to be effective for that purpose, it was proven to be safe for human use and is now being tested for treating muscle disorders in people. Roberts saw the opportunity to try this drug for ARVC patients.

“ARVC affects muscle tissue in the heart, and this drug is already suspected to help with muscle disorders,” he says. “Since our team has found that the tideglusib molecule prevented ARVC in mice, it now makes sense to see if this drug can prevent ARVC in people.”

“It now makes sense to see if this drug can prevent ARVC in people.”

Thanks to funding from Hamilton Health Sciences Foundation and Canadian Institutes of Health Research, Roberts and his team are conducting a clinical trial with this drug.

Breaking the `Newfoundland curse’

The trial is set to begin later this year and will include 120 patients from 15 sites across Canada, including HHS. Since there are multiple genes that can cause ARVC, the trial will focus on individuals that have one of six possible genes, including one that has been labelled the “Newfoundland curse” – a gene discovered by researchers in Newfoundland that was responsible for the sudden death of seemingly healthy young adults within multiple generations of families.

“Targeted therapies that are able to directly address the abnormalities that arise from disease-causing genetic mutations are becoming more common in the medical field and, in many instances, have been shown to be dramatically effective,” says Roberts. “We’re hopeful that our clinical trial will show that our treatment works for all genetic subtypes of ARVC, including the Newfoundland curse.”

 

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Canada to donate up to 200,000 vaccine doses to combat mpox outbreaks in Africa

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The Canadian government says it will donate up to 200,000 vaccine doses to fight the mpox outbreak in Congo and other African countries.

It says the donated doses of Imvamune will come from Canada’s existing supply and will not affect the country’s preparedness for mpox cases in this country.

Minister of Health Mark Holland says the donation “will help to protect those in the most affected regions of Africa and will help prevent further spread of the virus.”

Dr. Madhukar Pai, Canada research chair in epidemiology and global health, says although the donation is welcome, it is a very small portion of the estimated 10 million vaccine doses needed to control the outbreak.

Vaccine donations from wealthier countries have only recently started arriving in Africa, almost a month after the World Health Organization declared the mpox outbreak a public health emergency of international concern.

A few days after the declaration in August, Global Affairs Canada announced a contribution of $1 million for mpox surveillance, diagnostic tools, research and community awareness in Africa.

On Thursday, the Africa Centres for Disease Control and Prevention said mpox is still on the rise and that testing rates are “insufficient” across the continent.

Jason Kindrachuk, Canada research chair in emerging viruses at the University of Manitoba, said donating vaccines, in addition to supporting surveillance and diagnostic tests, is “massively important.”

But Kindrachuk, who has worked on the ground in Congo during the epidemic, also said that the international response to the mpox outbreak is “better late than never (but) better never late.”

“It would have been fantastic for us globally to not be in this position by having provided doses a much, much longer time prior than when we are,” he said, noting that the outbreak of clade I mpox in Congo started in early 2023.

Clade II mpox, endemic in regions of West Africa, came to the world’s attention even earlier — in 2022 — as that strain of virus spread to other countries, including Canada.

Two doses are recommended for mpox vaccination, so the donation may only benefit 100,000 people, Pai said.

Pai questioned whether Canada is contributing enough, as the federal government hasn’t said what percentage of its mpox vaccine stockpile it is donating.

“Small donations are simply not going to help end this crisis. We need to show greater solidarity and support,” he said in an email.

“That is the biggest lesson from the COVID-19 pandemic — our collective safety is tied with that of other nations.”

This report by The Canadian Press was first published Sept. 13, 2024.

Canadian Press health coverage receives support through a partnership with the Canadian Medical Association. CP is solely responsible for this content.

The Canadian Press. All rights reserved.

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How many Nova Scotians are on the doctor wait-list? Number hit 160,000 in June

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HALIFAX – The Nova Scotia government says it could be months before it reveals how many people are on the wait-list for a family doctor.

The head of the province’s health authority told reporters Wednesday that the government won’t release updated data until the 160,000 people who were on the wait-list in June are contacted to verify whether they still need primary care.

Karen Oldfield said Nova Scotia Health is working on validating the primary care wait-list data before posting new numbers, and that work may take a matter of months. The most recent public wait-list figures are from June 1, when 160,234 people, or about 16 per cent of the population, were on it.

“It’s going to take time to make 160,000 calls,” Oldfield said. “We are not talking weeks, we are talking months.”

The interim CEO and president of Nova Scotia Health said people on the list are being asked where they live, whether they still need a family doctor, and to give an update on their health.

A spokesperson with the province’s Health Department says the government and its health authority are “working hard” to turn the wait-list registry into a useful tool, adding that the data will be shared once it is validated.

Nova Scotia’s NDP are calling on Premier Tim Houston to immediately release statistics on how many people are looking for a family doctor. On Tuesday, the NDP introduced a bill that would require the health minister to make the number public every month.

“It is unacceptable for the list to be more than three months out of date,” NDP Leader Claudia Chender said Tuesday.

Chender said releasing this data regularly is vital so Nova Scotians can track the government’s progress on its main 2021 campaign promise: fixing health care.

The number of people in need of a family doctor has more than doubled between the 2021 summer election campaign and June 2024. Since September 2021 about 300 doctors have been added to the provincial health system, the Health Department said.

“We’ll know if Tim Houston is keeping his 2021 election promise to fix health care when Nova Scotians are attached to primary care,” Chender said.

This report by The Canadian Press was first published Sept. 11, 2024.

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Newfoundland and Labrador monitoring rise in whooping cough cases: medical officer

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ST. JOHN’S, N.L. – Newfoundland and Labrador‘s chief medical officer is monitoring the rise of whooping cough infections across the province as cases of the highly contagious disease continue to grow across Canada.

Dr. Janice Fitzgerald says that so far this year, the province has recorded 230 confirmed cases of the vaccine-preventable respiratory tract infection, also known as pertussis.

Late last month, Quebec reported more than 11,000 cases during the same time period, while Ontario counted 470 cases, well above the five-year average of 98. In Quebec, the majority of patients are between the ages of 10 and 14.

Meanwhile, New Brunswick has declared a whooping cough outbreak across the province. A total of 141 cases were reported by last month, exceeding the five-year average of 34.

The disease can lead to severe complications among vulnerable populations including infants, who are at the highest risk of suffering from complications like pneumonia and seizures. Symptoms may start with a runny nose, mild fever and cough, then progress to severe coughing accompanied by a distinctive “whooping” sound during inhalation.

“The public, especially pregnant people and those in close contact with infants, are encouraged to be aware of symptoms related to pertussis and to ensure vaccinations are up to date,” Newfoundland and Labrador’s Health Department said in a statement.

Whooping cough can be treated with antibiotics, but vaccination is the most effective way to control the spread of the disease. As a result, the province has expanded immunization efforts this school year. While booster doses are already offered in Grade 9, the vaccine is now being offered to Grade 8 students as well.

Public health officials say whooping cough is a cyclical disease that increases every two to five or six years.

Meanwhile, New Brunswick’s acting chief medical officer of health expects the current case count to get worse before tapering off.

A rise in whooping cough cases has also been reported in the United States and elsewhere. The Pan American Health Organization issued an alert in July encouraging countries to ramp up their surveillance and vaccination coverage.

This report by The Canadian Press was first published Sept. 10, 2024.

The Canadian Press. All rights reserved.

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