Testing a new treatment approach for spinal muscular atrophy with respiratory distress (SMARD)

Spinal Muscular Atrophy with Respiratory Distress (SMARD) is a rare inherited condition that affects the nerve cells that control muscles. Babies with SMARD develop severe muscle weakness, problems with movement and breathing, and the condition is often life-limiting. At present, there is no cure and treatment is mainly focused on managing symptoms. 

Previous research has identified a naturally occurring molecule in the body that appears to play an important role in keeping these nerve cells healthy. In healthy cells, this chemical is produced as part of the cell’s normal response to stress. However, in SMARD, this process does not work properly, meaning the protective chemical is not produced correctly. 

Studies in mice with SMARD suggest that restoring this natural chemical can dramatically reduce the severity of the condition. Instead of developing a severe, rapidly progressing condition, treated mice develop a much milder nerve disorder and survive for much longer. This could mean that replacing this missing protective molecule could be a completely new way of treating SMARD.

This project will test whether replacing this natural protective molecule can slow down or prevent nerve damage in SMARD. 

The team will first measure how the chemical changes as the condition develops. Then, different doses of a laboratory-made version will be tested to find the safest and most effective treatment before being tested in a model to see whether the therapy delays symptoms, slows progression of the condition and helps them live longer.  

If successful, this study will provide the first evidence that this type of treatment could be developed for people with SMARD. 

SMARD is a condition with very few treatment options. This research will test a completely new treatment approach based on restoring a natural molecule that helps keep nerve cells healthy. If it works, it could lead to the development of new treatments for SMARD and may also improve our understanding of other conditions that damage nerve cells, such as motor neuron diseases. Ultimately, this research aims to improve outcomes and offer new hope for children and families affected by these rare conditions.