In a groundbreaking development, the Montreal Children’s Hospital has administered gene therapy to a nine-day-old infant, making him the youngest patient in North America to receive this treatment. The therapy, known as Zolgensma, has proven to be highly effective, halting the progression of symptoms in the patient. Now four months old, Samuel is showing normal development, defying the otherwise grim prognosis of his condition.
Samuel suffers from spinal muscular atrophy (SMA), a rare genetic disease that typically manifests in weakened muscle control and can be fatal. With a prevalence of one in 10,000, SMA affects a relatively small number of people. However, its impact is devastating, often leading to a decline in motor function and a significantly decreased life expectancy.
Dr. Maryam Oskoui, head of pediatric neurology at the MCH, explained the harrowing effects of SMA, emphasizing the progressive loss of strength in the muscles, including those responsible for swallowing and breathing. Without intervention, most infants with SMA do not survive past the age of one.
Samuel’s mother, Audrey Bouchard, expressed her overwhelming joy that her son has received this life-changing treatment. However, her relief is mixed with sorrow, as her oldest child, Ariane, also suffers from SMA. Ariane received a similar therapy, but due to the experimental nature of the treatment at that time, she was given a lower dose too late, resulting in irreversible damage. Now nine years old, Ariane requires constant medical support and has limited mobility.
Bouchard’s experience underscores the importance of early intervention in treating SMA. With Samuel, the medical team recognized the urgency to preserve his health immediately after birth. The MCH acted swiftly, ensuring that Samuel received the gene therapy transfusion, a one-time treatment costing over $2 million, which was covered by the Quebec government.
Dr. Oskoui stressed the critical nature of early diagnosis and treatment for SMA. She commended the efforts of the MCH team in swiftly coordinating Samuel’s treatment. Going forward, Samuel will be closely monitored to ensure the long-term success and safety of the gene therapy.
The work at the Montreal Children’s Hospital gives hope to families affected by SMA. Newborn screening for the disease is already being implemented worldwide, including in certain provinces of Canada. Quebec is poised to launch its own SMA screening program, with the aim of making early detection and intervention more accessible. This groundbreaking progress may be the key to saving lives and transforming the future for those living with SMA.
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