Amyotrophic lateral sclerosis - new treatment options
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive muscle paralysis resulting from the degeneration of motor neurons in brain and spinal cord.
It is diagnosed in approximately 1/50,000 people per year, its incidence is estimated at 1/20,000 births, with a slight prevalence of disease in men (1.5:1).
It occurs mainly in a sporadic form (no one in the family has suffered from ALS), but also in a hereditary form (familial, 5-10%).
Approximately 30 genes are known to be responsible for the symptoms of ALS, but it is estimated that pathogenic variants in the C9orf72, SOD1, FUS and TARDBP genes are responsible for 59%-77% of cases of familial ALS.
Pathogenic variants in the C9orf72 gene are detected in 3-7% of sporadic cases of the disease, in the SOD1 gene in 3% of cases, and in the FUS and TARDBP genes even less frequently (less than 1%).
Clinical trials are underway for targeted treatment of ALS, including gene therapy, the most advanced for the C9orf72, SOD1 and FUS genes.
Clinical trials with tofersen (Qalsody, Biogen) - a synthetic, modified antisense oligonucleotide (ASO) that reduces levels of the SOD1 protein - led to the FDA approval in the US in 2023. Torsefen was authorised for use in the EU in 2024.
Tofersen can only be used in patients with SOD1-dependent ALS. The prerequisite for undertaking this treatment is a genetic test result confirming the presence of a pathogenic variant in the SOD1 gene. This applies to approximately 3% of patients with a sporadic form of the disease and 15%-20% of patients with a family history of the disease.
To facilitate access to ALS genetic diagnosis and enable potential qualification for treatment under the early access program, Genomed offers genetic testing of the C9orf72, SOD1, FUS and TARDP genes, performed in accordance with current recommendations for ALS diagnosis.
The testing is offered at a special, reduced price, and the turn-around time for the results has been shortened as much as possible (8 weeks).
Please visit the website dedicated to tests for amyotrophic lateral sclerosis: https://diagnostyka.genomed.pl/en/sklep/stwardnienie-zanikowe-boczne-als/
We offer a discount code, provided to patient organisations.
In case of any questions please contact us at: diagnostyka@genomed.pl.
