A life-changing diagnosis often brings uncertainty and limited options. For people living with ALS, medical progress has historically been slow, and families quickly learn to measure change in small steps.
Now, a hospital in Barcelona has begun using a newly approved drug aimed at a specific genetic form of the disease.
A targeted rollout
Hospital Germans Trias has started treating a 44-year-old patient with Tofersen, a therapy designed for ALS linked to mutations in the SOD1 gene.
This inherited variant represents a small share of total ALS cases but is among the more common genetic forms.
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The European Medicines Agency authorized the treatment in 2024 under special conditions. Spain’s Ministry of Health later approved and funded its use within the public healthcare system.
What studies show
International clinical trials indicate the drug can slow functional decline, help preserve respiratory capacity and improve muscle strength in patients with SOD1-related ALS.
Data reported from participating centers, including Bellvitge Hospital, found that about one in four patients showed early improvements on clinical function scales.
The therapy is delivered through lumbar punctures, with three initial doses given at two-week intervals, followed by monthly administrations.
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Its delivery requires coordination across neurology, anesthesiology, pharmacy and outpatient care teams.
The wider context
ALS, or amyotrophic lateral sclerosis, is a progressive neurodegenerative disease that damages motor neurons controlling voluntary movement.
As it advances, patients typically lose mobility, speech, swallowing ability and eventually respiratory function.
Average life expectancy after diagnosis is commonly three to five years, and there is no cure.
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For patients with the SOD1 mutation, the introduction of Tofersen is a notable development in a field where new treatment options have been rare.
Sources: Infobae
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This article is made and published by Mie Hermansen, who may have used AI in the preparation.