Finding effective treatments for muscle wasting conditions is an important priority of our research programme. Families often like to see the type of research taking place which can then be swiftly moved into clinical trials.
We are currently at an exciting stage as the number of clinical trials for muscle- wasting conditions is constantly rising and the scientific community expresses cautious optimism that some form of therapy will come to the clinic in the coming years. However, these are first generation treatments which at most will delay the progression of the condition.
There is no doubt that significant research still has to take place in the laboratory to improve current technologies. The knowledge about how to make therapeutic approaches more effective also sometimes comes from an unexpected angle following the results of basic research.
Two research articles have recently been published that illustrate this view extremely well.
In the first article it was shown that in spinal muscular atrophy the lack of the vital survival motor neuron protein or SMN is not only crucial for the survival of motor neurons but is also necessary for the correct development of blood vessels that provide the motor neurons with food and oxygen.
The second study suggests that dystrophin, the protein that has a crucial role in muscle cells is also expressed in muscle stem cells responsible for muscle cell growth and repair after injury.
Scientists did not know about these new roles of the SMN or dystrophin protein and it is basic research conducted in mouse models that gave them this insight.
A better understanding of the biology of these conditions can help scientists to develop new therapeutic approaches in a more targeted way. For example, for spinal muscular atrophy scientists are currently testing a virus that will deliver a healthy SMN protein to motor neurons. Armed with the knowledge that the gene is important for blood vessel development they can now chose a virus that will also deliver the gene to these cells resulting in a potentially more efficient therapeutic approach.
A similar case can be made for the new results for Duchenne muscular dystrophy. The gene is too large to fit into a virus and researchers have successfully made a minituare version of the dystrophin gene that includes the most important parts. This mini-gene, however, does not include those parts of the gene that may be important for muscle stem cell function. The researchers now, may have to take these new results into consideration and go back to the drawing board to amend their design of the dystrophin mini-gene.
Both stories are striking examples of the direct impact of basic research for making current therapeutic approaches more effective.
While it is important to move promising technologies swiftly forward into clinical trial, it is also vital we continue to invest in basic science to improve the quality of these technologies.