A new treatment for TK2d is now available in the UK through the Early Access to Medicines Scheme. Doxecitine-doxribtimine is the first medicine developed specifically to target the underlying cause of TK2d.
Professor Volker Straub and his PhD student are working to investigate a gene called LPCAT3 which may be linked to a new form of a muscle wasting condition. Understanding this gene will help develop future possible treatments.
Dr Fabrizio Pertusati and his PhD student are working to improve a new treatment for ADSS1 myopathy.
Dr Massimo Ganassi and his PhD student will create CFZS laboratory models to study how healthy muscle development is altered and how these changes can lead to muscle weakness so that targeted treatments can be developed.
Dr Jarod Sze Choong Wong and team are developing a tool to estimate the risk of boys with DMD developing spinal fractures. This will help to catch them before a fracture happens, allowing treatment to start earlier and prevent avoidable pain and disability.
Professor Julie Dumonceaux and her team are exploring why some muscles in facioscapulohumeral muscular dystrophy (FSHD) remain healthy while others become weak and damaged. This knowledge could help researchers develop better ways to monitor the condition and identify new treatment approaches.
Professor Peter Zammit and his team are studying how the drug metformin affects muscle cells in people with FSHD, to investigate whether it could be used as a treatment.
Dr Marion Hogg and team are testing a completely new treatment approach for SMARD, based on restoring levels of a natural chemical that helps keep nerve cells healthy. This could lead to the development of new treatments for SMARD.
Professor Jordi Diaz-Manera and his team are developing a new type of muscle scan to identify active muscle damage in people with muscle wasting conditions. This will show whether this new scanning method could be a useful tool for condition monitoring and developing new treatments.
Jose Verdu Diaz and colleagues at Newcastle University will be comparing MRI scans from different people with muscle wasting conditions to try to develop an online tool that helps doctors compare scans and understand how the condition is likely to progress and improve understanding of rare muscle wasting conditions.