Research Update
When we incorporated Charley’s Fund in November 2004, I had no idea that we could have an impact on the medical research in such a short period of time. Mentally, I buckled in for a very long road, expecting to raise money and then wait for months – or even years – to see if it helped. So I am amazed to report that in just 18 months, we have already seen tangible results on several fronts.
Our most exciting development: our research team in the Netherlands has started a human clinical trial of their exon skipping therapy. Exon skipping modifies the way the body reads the genetic code. Boys with Duchenne who are successfully treated with exon skipping will “convert� to Becker Muscular Dystrophy, a much milder form of the disease. If this approach works as well as it promises to, the treatment could give Charley and other young boys the gift of an entire adolescence (and maybe even more) on their feet.
In the Netherlands, scientists are far enough along to begin testing the therapy in humans. They are currently recruiting teenage boys with DMD so they can inject the exon skipping compound into the biceps muscle. This part of the trial (Phase I) will is designed to answer two questions: Is the treatment safe, and does it accomplish its intended goal in a single muscle? This phase is expected to last for four months.
Back in the United States, we are funding exon skipping research being led by Dr. Qi Lu at the Carolinas Medical Center in Charlotte, NC. Dr Lu recently showed that by intravenously injecting a Duchenne mouse with exon skipping, he can produce enough dystrophin to effect clinical improvement. Dr. Lu’s chemistry differs from the compound being used by the team in the Nertherlands. It is our hope that by forging various paths to the same ultimate solution, these two scientific leaders will make important – and different -- discoveries along the way from which everyone involved can benefit.
A third project of ours that is really moving along is the production of a new mouse model. For decades, DMD researchers have been using a mouse model called the dmx mouse. This mouse has the murine form of Duchenne Muscular Dystrophy. We are funding the creation of a new mouse model that has human genetic material. This new mouse has the same genetic mutation as a human child with Duchenne, so it will help us test potential therapies more effectively. The principal investigator in charge of the research has been a true champion of our cause. Although the long process of finalizing a written contract is still ongoing, he refuses to allow the research to be held up:
… neither Hell nor high water will slow us on our mission. They could wrap me entirely in red tape and it wouldn't make a speck of a difference. In fact, I already have the approval from the institutional review board to make the mouse. Be assured that nothing is getting in our way.
We are so grateful to Dr. Thresher for his commitment and his “get-it-done� attitude.
In another area of DMD research, PTC Therapeutics in New Jersey is also making great headway. They recently discovered four druggable “targets� that – if modulated effectively -- will help children with DMD. For example, since boys with DMD do not produce dystrophin, one way to help them is to increase the production of a similar protein called utrophin. PTC is developing compounds that will create a desired effect in four different areas. They plan to start preparing at least one drug for human clinical trials by April 2008.
We continue to scout out companies and academicians that have the potential to improve the prognosis of boys with DMD. In fact, we are in the final stages of contract negotiations with a European company that is developing a “small molecule drug� designed to slow the progression of Duchenne. More news on that within the next few weeks…