Improving treatments for ADSS1 myopathy

ADSS1 myopathy (previously known as ADSSL-1 myopathy) is an extremely rare inherited muscle condition that causes muscles to become weaker over time. Symptoms usually begin in childhood, with children taking longer to reach movement milestones such as walking. As the condition progresses, everyday activities become more difficult, and many people eventually lose the ability to walk. The muscles used for swallowing and breathing can also become weaker, making the condition life-limiting. 

There is currently no approved treatment for ADSS1 myopathy.  

In 2023, we funded Dr Fabrizio Pertusati’s research producing synthetic drugs that could improve how energy is used in muscles as potential treatments for ADSS1 myopathy. This treatment replaces a natural substance missing from the muscles of people with ADSS1 myopathy. The first clinical trial of a similar treatment is due to begin soon. 

Unfortunately, this new treatment is difficult for the body to absorb, which means patients need high doses given by slow injections under the skin. This makes treatment less practical and more difficult for those with a condition. Finding a better way to deliver this medicine is now one of the biggest challenges to making it a realistic, and acceptable, long-term treatment.

This study aims to improve the new treatment being developed for ADSS1 myopathy so it’s easier to absorb and better at reaching muscle tissue.  

The researchers will design and test new versions with the aim of creating a treatment that works just as well, or even better, but can be given at lower doses and, ideally, taken by mouth instead of requiring regular injections. 

The most promising versions will be tested in laboratory animal models of ADSS1 myopathy to see whether they improve muscle function safely and effectively. 

By making the treatment easier to deliver, it will hopefully bring it one step closer to becoming a practical therapy for people living with ADSS1 myopathy. 

Families affected by ADSS1 myopathy urgently need effective treatments. While a promising new therapy is now entering clinical trials, it’s difficult to deliver and may place a significant burden on people receiving it. 

This research aims to overcome the challenge of this treatment delivery by developing a version that is easier to take and more effective at reaching the muscles where it’s needed. If successful, it could improve quality of life for people with ADSS1 myopathy and increase the chances of this treatment becoming widely available. It may also help improve treatments for other rare muscle wasting conditions in the future.