Treatment of Progressive ALS with Pathogenic SOD1 Gene Mutation

This protocol applies to individuals with progressive amyotrophic lateral sclerosis in whom a pathogenic mutation in the superoxide dismutase 1 (SOD1) gene has been identified — a genetically defined subgroup with a distinct first-line treatment pathway.

Clinical Scenario

Progressive ALS confirmed with a pathogenic mutation in the superoxide dismutase 1 (SOD1) gene. Identification of this specific genetic variant defines eligibility for the treatment approach described in this protocol.

Treatment Approach — Partial Overview

A targeted therapy is recommended as the first-line intervention for this SOD1-defined population. The full structured regimen, including eligibility criteria, administration guidance, and clinical decision points, is available in the complete protocol.

Full regimen details are available via the protocol link below.

Instant Access to Structured Evidence-Based Regimens

References

In people with progressive ALS caused by pathogenic mutations in superoxide dismutase 1 (SOD1), offer tofersen as first-line treatment.

DOI: 10.1111/ene.16264

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