Research
Science and research offer those living with Duchenne the only means of finding a cure and the treatments we so desperately need to slow or totally reverse the severe muscle wasting.
Why are we still waiting?
Duchenne was identified clinically over 100 years ago but the structure of the gene that is responsible for Duchenne was only discovered in 1987 by Luis Kunkel, Tony Monaco, Kay Davies, Eric Hoffman and others. This extraordinary genetic research opened the door for a cure for Duchenne so why are we still waiting?
There are a number of factors. Replacing the full gene with a working copy has proved difficult due to its size, the largest in the human genome, and being able to deliver the gene to all muscle cells in the body.
The initial hope from the work of Kunkel and others was dashed as no quick fix could be found. Scientific work has continued by small numbers of dedicated research groups around the world since 1987 by using a Duchenne animal model called the mdx mouse. A great deal of promising data has come from this research over the last 20 years but little has ever reached human clinical trials.
"My son ain’t a mouse"
Research has been stuck in a cycle of promising animal work followed by publications and further animal studies. Poor levels of research funding for Duchenne have driven some researchers out of the field. Lack of recognition and promises of greater rewards working on Cancer, Alzheimer’s, Parkinson’s, MS and even Cystic Fibrosis has left research into Duchenne thin on the ground. Cystic Fibrosis currently has 10 times the number of research papers published compared to Duchenne in the medical literature.
Parent led groups like PPMD in the USA and Action Duchenne in the UK have lobbied Governemnts hard to reverese this terrible state of affairs. Here in the UK past governments record of funding Duchenne research has been miserable amounting to little more than £1m before 2003.
To take promising mouse research into human clinical trial requires budgets into the 10’s of millions. It also requires a clinical trial expertise and infrastructure that until recently has been completely missing in the UK.
It is hardly surprising that research and clinical groups have not been keen to take their very promising mouse studies forward into expensive trials on boys with Duchenne. But without these clinical trials new gene therapies and drugs will not become available for those living with Duchenne.
Let’s get off the sofa
In the last couple of years there has been real progress in moving into new clinical trails for gene therapies and for new drugs. You can see this progress by clicking on the nav bar to the left. Action Duchenne has been a major player in the campaign for a cure for Duchenne. But we still have a lot to do to overcome the inertia of the last two decades. We are currently seeking to raise £2m to fund new research and clinical trials. This money will help to drive forward the exon skipping trials, new drug discovery programmes and work on stem cells. We continue to campaign with the Government to match fund our efforts. You can help by joining us and raising all the money you can to make a real difference to our sons lives.