Page last updated: 21st January 2025

SMA-PME research in the laboratory is currently very limited. Nevertheless, there have been a developments in the last few years indicating that this may be about to change.

In 2023, a team of researchers in the US led by Prof. Jeffrey Medin, developed a new mouse model to study SMA-PME¹. The mouse is called the P361R-SMA mouse and has a mutation in the ASAH1 gene, just like those people with SMA-PME. The SMA-PME mice showed a number of symptoms similar to the human condition. For example, the P361R-SMA mice displayed motor neuron loss, increased inflammation, reduced survival and altered levels of key proteins usually modified by the healthy ASAH1 protein.

In follow-up work, the same team tested a new therapeutic approach in the P361R-SMA mice². The treatment was based on taking stem cells from the bones of healthy mice and injecting them into the bloodstream of the SMA-PME mice. This strategy relies on the stem cells producing the ASAH1 protein, which is impaired in the disease. The stem cell-treated mice showed improvements in many of their symptoms, indicating that this approach has promise in SMA-PME. Although, it should be noted that the improvements depended on the disease being treated very early.