Treatment Approaches

SMN1 Gene Replacement

SMA is caused by mutation of the SMN1 gene. Researchers are trying to treat SMA by replacing this faulty gene.

Modulation of SMN2, the ‘back-up’ gene: Through Antisense Oligonucleotides (ASOs)

The SMN2 gene contributes to the body’s SMN protein production, but it doesn’t work as well as SMN1. ASOs can accurately target SMN2 to essentially convert it into the SMN1 gene.

Modulation of SMN2, the ‘back-up’ gene: Through Small Molecules

As well as ASOs, chemicals and compounds, often known as small molecules, have potential to increase the amount of SMN protein made by SMN2.

Neuroprotection of Motor Neurons

Neuroprotection aims to support motor neurons by maintaining/restoring their function and/or preventing their death. This approach doesn’t target the underlying genetics of SMA, but it could be readily used in combination with other treatments.

Muscle Protection

The goal of muscle protection is to provide additional support to muscles to restrict their atrophy, increase muscle mass, and perhaps even restore some muscle function. This strategy doesn’t target the underlying genetics of SMA, but aims to slow or stop its progression.