Research on genetic heart condition could save young lives

Health

Research on genetic heart condition could save young lives

Published

12 months ago

May 11, 2023

Harry Miller

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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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Health

April 22nd to 30th is Immunization Awareness Week – Oldies 107.7

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59 mins ago

April 24, 2024

Harry Miller

<!–April 22nd to 30th is Immunization Awareness Week | Oldies 107.7

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AHS confirms case of measles in Edmonton – CityNews Edmonton

Published

2 hours ago

April 24, 2024

Harry Miller

Alberta Health Services (AHS) has confirmed a case of measles in Edmonton, and is advising the public that the individual was out in public while infectious.

Measles is an extremely contagious disease that is spread easily through the air, and can only be prevented through immunization.

AHS says individuals who were in the following locations during the specified dates and times, may have been exposed to measles.

April 16
- Edmonton International Airport, international arrivals and baggage claim area — between 3:20 p.m. and 6 p.m.
April 20
- Stollery Children’s Hospital Emergency Department — between 5 a.m. to 3 p.m.
April 22
- 66^th Medical Clinic (13635 66 St NW Edmonton) — between 12:15 p.m. to 3:30 p.m.
- Pharmacy 66 (13637 66 St NW Edmonton) — between 12:15 p.m. to 3:30 p.m.
April 23
- Stollery Children’s Hospital Emergency Department — between 4:40 a.m. to 9:33 a.m.

AHS says anyone who attended those locations during those times is at risk of developing measles if they’ve not had two documented doses of measles-containing vaccine.

Those who have not had two doses, who are pregnant, under one year of age, or have a weakened immune system are at greatest risk of getting measles and should contact Health Link at 1-877-720-0707.

Symptoms

Symptoms of measles include a fever of 38.3° C or higher, cough, runny nose, and/or red eyes, a red blotchy rash that appears three to seven days after fever starts, beginning behind the ears and on the face and spreading down the body and then to the arms and legs.

If you have any of these symptoms stay home and call Health Link.

In Alberta, measles vaccine is offered, free of charge, through Alberta’s publicly funded immunization program. Children in Alberta typically receive their first dose of measles vaccine at 12 months of age, and their second dose at 18 months of age.

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U.S. tightens rules for dairy cows a day after bird flu virus fragments found in pasteurized milk samples – Toronto Star

Published

3 hours ago

April 24, 2024

Harry Miller

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Infected cows were already prohibited from being transported out of state, but that was based on the physical characteristics of the milk, which looks curdled when a cow is infected, or a cow has decreased lactation or low appetite, both symptoms of infection.

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