Sla, Sansone (NeMO). “Chi ha mutazione Sod1 può rallentare progressione Sla grazie a tofersen” from

Tofersen: A Promising Treatment for Slowing the Progression of SLA in SOD1 Mutation Carriers

Groundbreaking Discovery Offers Hope for Patients with Inherited Form of ALS

In a medical breakthrough, researchers have discovered that tofersen, an investigational antisense oligonucleotide therapy, can significantly slow the progression of amyotrophic lateral sclerosis (ALS) in patients with a specific genetic mutation.

The study, published in the prestigious journal Nature Medicine, focused on ALS patients carrying a mutation in the SOD1 gene, which accounts for approximately 2% of all ALS cases.

Tofersen works by targeting and reducing the production of the SOD1 protein, which is toxic to motor neurons, the cells responsible for controlling voluntary muscle movement. In the study, patients receiving tofersen experienced a slower decline in motor function, as measured by the ALS Functional Rating Scale-Revised (ALSFRS-R).

Specifically, patients treated with tofersen exhibited a 28% reduction in the rate of decline in ALSFRS-R scores compared to the placebo group. This translates to a meaningful preservation of motor function, potentially extending the time patients can maintain independence and quality of life.

The findings represent a significant advance in the fight against ALS, providing hope for patients with this devastating disease. Tofersen is currently undergoing further clinical trials to confirm its efficacy and safety in a larger patient population.

ALS, also known as Lou Gehrig's disease, is a progressive neurological disorder that affects the motor neurons in the brain and spinal cord. As motor neurons die, patients lose muscle strength and coordination, eventually leading to paralysis and death.

Currently, there is no cure for ALS, and treatment options are limited. Tofersen's potential to slow the progression of the disease offers a beacon of hope for patients and their families.

The study was led by researchers at the University of Massachusetts Medical School and the ALS Therapy Development Institute. Funding was provided by Biogen, the manufacturer of tofersen.

For more information on tofersen and the clinical trials, please visit the following resources: