Novartis has published a paper in the journal Nature Chemical Biology, detailing promising results in their program to develop an orally available SMA drug that corrects SMN2 splicing. In testing, the drug increased SMN protein levels and extended survival in a severe mouse model of SMA.
Novartis is currently testing this drug in a Phase 2 clinical trial at several European sites. The open-label trial is enrolling infants aged six months or less with SMA type I, who also meet other inclusion/exclusion criteria. Complete information on this clinical trial can be found on the FDA’s clinical trial registry.
Individuals with SMA don’t produce SMN protein at high enough levels, due to a mutation in the SMN1 gene. Individuals with SMA do have one or more copies of the SMN2 gene, which also produces SMN protein, but most of the protein produced by SMN2 lacks a key building block.
Cure SMA has identified four possible therapeutic approaches for treating SMA, one of which targets the SMN2 gene. The goal of this approach is to correct the gene splicing, meaning SMN2 could produce a complete protein, or to prompt SMN2 to make more protein. The Novartis program is one of several programs pursuing this approach.