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November 09, 2006
Motherhood, apple pie and GOOGLE ALERTS!
Motherhood, apple pie and GOOGLE ALERTS! Who knew the word GOOGLE would be part of our everyday thinking and conversation. It is a strange word I think, but nevertheless, nearly like ‘chocolate’, a staple in our everyday life. I am guessing most of us are receiving ‘google alerts’ and have searches lined up on muscle, muscular dystrophy, Duchenne muscular dystrophy and probably a range of other topics, each day opening up our various “in boxes†with the hope of news, something to hold onto, something to improve the day, some ray of hope. In a certain way – the google alerts provide us with a built in cheat sheet or a virtual assistant to keep us up-to-date with the latest information.
It is easy to take a quick peak and determine if the ‘alert’ is interesting – whether that means something potentially relevant for our lives. The alerts are comforting, reassuring and on certain days, reason to believe things will be different.
If it pertains to research on DMD, I would also guess that the ‘google alerts’ act as reminders as well to enter the National Library of Medicine (Pubmed) site in an effort to read the details. It is amazing actually. For those of us in this field for a number of years, this dramatic change in the breath and scope of research in DMD is nothing less than amazing.
Several pilot trials have recently reported preliminary data. The Dutch exon skipping (aon) trial has started. Each boy had a small section of a single muscle injected with the 2Omethyl AON chemistry. The idea behind the strategy is to inject a specific chemistry that ‘snips’ the gene back together (in-frame) in order for the cell machinery to make sense of the genetic instructions (recipe) and the result is a shorted, but (hopefully) functional form of Dystrophin. The first data shows promising results. There were no side effects.
Twenty-six boys with confirmed premature stop codons received PTC124 for a period of 28 days. Preliminary results have recently been released. The data is positive, with a number of the boys expressing dystrophin on biopsy of the EDB muscle (small muscle in the foot). There were no significant side effects reported.
What does all of this mean? It is a signal to move forward, to take another step. In the Dutch trial, if the biopsy results in the boys are positive, they hope to have sufficient data to submit a request to the regulatory agencies, ethics boards and institutional boards (yes, you need all three!) for permission to deliver the chemistry systemically.
PTC124 is a small molecule. Taken by mouth, it is systemic. Preliminary data from the PTC 124 trial gives a green light as well.
Are we there yet? The answer is no, but there is progress and we should all take a moment to recognize it. We have learned that Dystrophin can be restored in muscle and at least preliminary data suggests, the dystrophin is not rejected. For me, it is a little peak into heaven. A SIGN. Since the Dystrophin gene was identified in 1986, I have heard ‘all we need to do is restore dystrophin’ – like it was going to be easy. I think we all had the sense that it would be relatively easy and relatively quick. I recall speaking to a researcher in 1987 and hearing ‘we have the gene and protein product, all we need to do is deliver it’. Famous last words, but we had no idea how difficult it would be and/or how much time it would take. We had no idea of the magnitude of that statement. What we learned in those 20 years since this gene was identified is that restoring Dystrophin is not trivial. Rather it is a monumental task and that task has taken 20 years and a number of starts and stops. We are not there yet, but we are definitely on the road.
These small, but important successes have energized the researchers in the field, generated novel ideas and strategies to impact degeneration, have positively impacted care and certainly serve as a magnet to attract industry. Interesting strategies to impact the biochemical cascade that occurs based on the lack of dystrophin are being pursued. (more google alerts!). Positive and negative regulators of muscle are coming to the forefront. Upregulation of alternate proteins (Utrophin, Integrin) are on the horizon. Things are changing –ok, never fast enough for a community that wanted/needed help yesterday, last week , last year. But things are changing and this bench to bedside and back to bench is influencing is impacting our sons’ lives. The course of Duchenne muscular dystrophy is changing.
As families, I think we were always ‘believers’ –something deep inside us said that Dystrophin can be restored and on any given day the ‘how and when’ answers may be different. But, we were and remain sure that Duchenne can be treated. These steps -though I realize they need to be considered baby steps at this moment -are steps nonetheless and with each step, we continue steadfast on our journey.
Posted by ppmd at 01:35 PM | Comments (0)