Montreal researchers are collaborating on an international study to gain a deeper understanding of Friedreich’s ataxia, a genetic disease prevalent in Canada, particularly in Quebec and the Acadian regions of the Maritimes. Dr. Massimo Pandolfo of the Montreal Neurological Institute is one of the experts involved in collecting research on the condition, which causes progressive mobility limitations and cardiac problems. He emphasizes the substantial disability caused by this neurodegenerative disease and the need to develop efficient therapies.
The observational study is open to patients across Canada and requires a lengthy MRI, blood tests, and a physical examination. Participating patients will contribute to the advancement of treatment development and improve the understanding of the disease. Despite the absence of a cure, Pandolfo mentions promising potential treatments that need thorough testing. The goal is to comprehend how Friedreich’s ataxia affects the central nervous system, particularly the brain and cerebellum.
Friedreich’s ataxia is caused by a unique mutation that likely occurred only once in human history. It is primarily found in certain regions of the world, particularly western and southern Europe. Quebec and the Acadian regions of the Maritimes have a higher prevalence due to their ancestral ties to western France, where the disease is comparably common.
Two individuals living with Friedreich’s ataxia who volunteered for the study express their satisfaction in contributing to new research and connecting with others who understand their condition. Despite being one of the more common rare diseases worldwide, with approximately 15,000 affected individuals, many people are unaware of Friedreich’s ataxia. Comparing it to ALS is often necessary to provide a simple explanation to others.
Furthermore, individuals like Brittany Sommerfield, diagnosed with Friedreich’s ataxia at the age of 13, continue to lead fulfilling lives despite relying on a wheelchair full time. Sommerfield actively participates in various activities, including casual work in the travel industry, volunteering at a zoo, and engaging with the Friedreich’s Ataxia Research Alliance. She appreciates the opportunity to contribute to expanding knowledge about the disease and potentially play a role in the discovery of new treatments.
Megan Dewar, a resident of British Columbia, feels empowered by her participation in the study because it allows her to meet researchers specializing in Friedreich’s ataxia, an experience she rarely encounters outside of her doctors’ office. Dewar sought medical attention in her mid-teens due to symptoms like poor balance and slurred speech. However, the relatively unknown nature of the condition delayed her diagnosis by approximately two years.
Living with Friedreich’s ataxia for Dewar means constantly adapting to changing needs and navigating a world that is often not inclusively designed for individuals with disabilities. The study, which includes participants from Australia, Europe, the United States, Brazil, and Canada, is expected to take about two years to complete. The Montreal researchers aim to recruit a few more patients from across Canada by the end of the month, covering all travel costs for volunteers.
Overall, the study on Friedreich’s ataxia conducted by Montreal researchers offers hope for advancements in understanding and treating this rare genetic disease.
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