The Search for a Cure
Promising research is being conducted around the globe to find a cure, or failing that, a therapy that can mitigate some of the devastating effects of the disease. Finding a cure is made more complex by the number and variation of genetic mutations in the dystrophin gene that result in DMD. However, worldwide advances have been made on various fronts to conquer the disease. Currently, the research falls into three main categories, namely, muscle cell transfer, pharmacological approaches and gene therapy.
One line of research in muscle cell transfer is exploring the possibility of removing skin cells from a patient, inserting a correct version of the gene and then reintroducing them into the person to help repopulate the muscle and form functional muscle tissue. Another approach is the use of stem cells. Broadly speaking, these are cells that have not become specialized to form a particular cell type and have the potential to become, for example, a muscle cell. There are mixed views on the use of stem cell.
The pharmacological approach refers to the use of drugs as possible therapies for DMD. Studies include the investigation of existing drugs that are marketed for other medical conditions but could have an impact on DMD. The advantage of testing known drugs is that, if one was found to be helpful, it could easily be fast tracked through clinical trials as it is already registered. Examples of drugs include steroids, antibiotics, calcium inhibitors and anti-inflammatories.
With respect to gene therapy, several approaches are being pursued. One is gene transfer, which involves the incorporation of new DNA into the cells of an organism. In the case of DMD, a new functional dystrophin gene would be inserted into muscle cells to compensate for the non-functional one. Another approach being investigated is gene modification, where the aim is to change or repair the gene sequence for therapeutic effect.
In November 2007, in a world first, a small group of patients in the United Kingdom were injected with an experimental drug which, it is hoped, will extend their lives. The injection contains a 'molecular patch' targeting the faulty gene to make it work again. At first, minute quantities of the drug will be used to ensure that it is safe. If it works, the drug will effectively knit together the key damaged section of DNA, allowing it to begin producing a protein that keeps the muscles strong. The hope is that it could slow, or even halt the progression of muscle wasting, and give some patients the chance of living into old age. Animal trials of the drug have proved highly successful. If it works in humans, patients would need regular infusions of the drug. This is the first time that results from this type of research are so close to being translated into a treatment. According to one of the lead researchers, even if this proves not to be a complete cure, it could definitely buy a lot of time for these children.