Tofersen, now known as Qalsody, targets a specific genetic mutation, SOD1, present in 2% of patients with amyotrophic lateral sclerosis (ALS). This medication has been shown to slow and even reverse the progression of symptoms in selected patients.
A recent randomized controlled clinical trial has shown significant stabilization of symptoms in participants receiving tofersen.
More than 20% of these patients experienced improvements in muscle strength and function over three years, a remarkably unusual result in the context of ALS treatment.
Dr. Timothy Miller, David Clayson Professor of Neurology at Washington University School of Medicine in St. Louis and senior author of the study, said ABC News the importance of these findings, suggesting that this could be a crucial advance toward effective treatments that target the underlying genetic causes of ALS.
“This is the first study where we saw a really dramatic stabilization and slowing. I think we know from this study that some forms of ALS are treatable,” he said.
ALS is a neurological disorder that affects nerve cells in the brain and spinal cord, controlling voluntary muscle movement and breathing.
Patient Testimonials
Jessica Morris, a patient who began using tofersen through expanded access, has reported significant improvements in her quality of life. After experiencing muscle weakness and dependence on a wheelchair, medication has allowed him to regain some mobility and perform daily tasks.
“This medication gives me hope, hope for a future I never dreamed of having,” Morris told ABC News.
“It’s like winning the lottery to have ALS and have this opportunity to have a medication that is not only supposed to slow the progression, but, in my case, helped me get out of the wheelchair. That’s very important,” he explained.
A hopeful future
As the number of ALS cases continues to rise, clinical trial results and the stories of patients like Morris offer a ray of hope.
Experts believe that this drug could be a turning point in the treatment of ALS and improve the quality of life for many, although its benefit is limited to a small percentage of patients.
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