Gene Therapy Halts Progression of Young Boy's Rare Genetic Condition | Canada News Media
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Gene Therapy Halts Progression of Young Boy’s Rare Genetic Condition

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Michael has spastic paraplegia type 50 (SPG50), an “ultra-rare” progressive neurodegenerative disorder that causes developmental delays, speech impairment, seizures, progressive paralysis of all four limbs, and is typically fatal by adulthood. Approximately 80 children around the world are affected by this genetic condition.

In a bid to slow the progression of the condition, a clinical research team at SickKids administered a first single-patient gene therapy to Michael less than three years after his initial diagnosis.

Today, the groundbreaking clinical trial published in Nature Medicine documents Michael’s journey in the 12 months following the procedure, along with the novel impact this trial holds for the future of genetic medicine in Canada.

What is gene therapy?

Gene therapy is a way of delivering a healthy copy of a gene into the cells of a person who has a faulty gene(s). In Michael’s case, SPG50 is caused by two pathogenic variants in a gene called AP4M1.

Led by Dr. Jim Dowling, Staff Physician in the Division of Neurology and Senior Scientist in the Genetics & Genome Biology program at SickKids, the clinical research team delivered the healthy AP4M1 gene into Michael’s spinal fluid, which carried the gene directly to the nerve cells.

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“While these ultra-rare diseases are unique, our workflow provides a road map for gene therapies that could help many of the thousands of children in Canada with rare genetic conditions,” says Dowling.

Thanks to a multi-center collaboration with doctors and companies in the U.S. and Canada to coordinate the research, development, and manufacturing of a gene replacement therapy, the team were, remarkably, able to administer the gene therapy treatment to Michael within three years of diagnosis.

Michael’s journey

In the 12 months after he received the treatment, Michael experienced no serious side effects and, contrary to the hallmark of neurodegenerative conditions like SPG50, his condition does not seem to be progressing further.

He also began to show potential signs of improvement. For the first time, Michael was able to stand with his heels on the ground. He also experienced improvements in some aspects of his neurodevelopment.

“When we heard that Michael had been diagnosed with this terrible disease, our world fell apart. We were lost and broken as a family,” says Michael’s parents, Terry and Georgia. “Thankfully, we had an amazing team at SickKids and a supportive community that lifted us up and gave us the confidence to raise millions of dollars and create a therapy, not only for Michael, but for other children affected by this disease for generations to come.”

The future of gene therapy in Canada

The clinical research team continues to follow Michael’s progress, but the trial provides important initial evidence of the safety and efficacy of gene therapy to reduce or halt the progression of SPG50.

Importantly, the results also highlight how gene therapy can be developed quickly and personalized for individual patients with rare genetic conditions. They hope that this approach can be used for other conditions in the future to help achieve Precision Child Health, a movement at SickKids to deliver individualized care for every patient.

Reference: Dowling JJ, Pirovolakis T, Devakandan K, et al. AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient. Nat Med. 2024. doi: 10.1038/s41591-024-03078-4

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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.

The Canadian Press. All rights reserved.

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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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Bizarre Sunlight Loophole Melts Belly Fat Fast!

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