Race Against Time: Interview with Luis Garcia
Almost a year ago the fourth edition of the Only Watch charity watch auction brought in €4 million, all of which was donated for research into Duchenne muscular dystrophy.
Although the research money enables scientists to make progress in promising avenues for treatment of the disease, there is still a gigantic task ahead, says Luis Garcia, scientific coordinator of the research project. He answered our questions:
MYS: Luis Garcia, can you briefly tell us what Duchenne muscular dystrophy is?
Luis Garcia:Duchenne muscular dystrophy (DMD) was identified in the mid-19th century by a French doctor of that name. It is the most common of the childhood muscular dystrophies. It is caused by anomalies or mutations in the gene that codes for the protein dystrophin. This gene is on the X chromosome, which is why it is almost always boys who are affected – one in 3500 male births.
MYS: How does the disease progress and what impact does it have on daily life?
LG:The first visible symptoms appear around the age of three. Children have difficulty running, climbing stairs, etc. – they slow down. Around the age of ten, sometimes earlier, they lose the ability to walk. The disease progresses inexorably and adolescents lose the strength of their arms and torso. They may have cardiac complications as well.
MYS: Your research teams have been working for ten years on treatments to cure this disease. What's the situation now?
LG:Several avenues are being explored. The most promising are stem cell therapy, introducing fresh cells to rebuild the muscles; gene therapy, introducing into all the muscles a new, replacement gene coding for dystrophin; and finally repair of the mutated dystrophin gene using an exon skipping technique. All these methods are currently undergoing clinical trials in young patients.
MYS: If we cannot yet cure the disease, can we prevent it from worsening?
LG:Progress in patient care has greatly increased patients' life expectancy and improved their quality of life. Until very recently, Duchenne muscular dystrophy was almost exclusively a paediatric disease. Today, thanks to physiotherapy, cardiac prevention, surgery when necessary, corticosteroid treatment etc., more and more patients are going into further education and can consider starting a career.
What's the next step in therapeutic research?
LG:There's still much to be done. Exon 51 skipping is especially promising, with candidate patients who will probably be the first to benefit from the treatment. But they represent only 10% of DMD sufferers. We have yet to develop treatments for the other 90%, many of whom suffer from singular anomalies which can only be addressed by an individual approach. We must also continue to innovate to develop drugs that address all the requirements of the disease, that's to say drugs capable of treating all the muscles and the heart.
MYS: What are the obstacles preventing progress at present?
LG:Nothing is really preventing progress, but the task is simply enormous. It's a race against time and, inevitably, there are never enough resources. We need more researchers and technicians, more clinicians involved in clinical trials. We need to produce pilot drugs or prototypes in line with the pharmaceutical industry's regulations, etc., and all that is extraordinarily costly.
MYS: All the funds raised by Only Watch go to research on Duchenne muscular dystrophy. What have they paid for in practical terms?
LG:This money funds 15 research teams worldwide, working in concert to develop stem cell therapy, gene therapy and exon skipping. These teams are all driven by the same determination to develop treatments and are all part of an international collaborative effort (ICE). The funds raised by Only Watch have made it possible to recruit many post-doctoral researchers and young technicians – the backbone of research work. They have also paid for cutting edge equipment and laboratory running costs.
MYS: Tell us about ICE.
LG:ICE, the International Collaborative Effort, was decided on in 2005 by the Association Monégasque contre les Myopathies and the Duchenne Parent Project France. It was launched in Monaco in 2008. It includes 15 research teams in French, English, Italian and American universities and hospitals which have joined forces at the behest of the two associations. The aim of ICE is to foster close ties between these teams and combine their skills and knowledge to create the necessary conditions for future therapeutic success.
