I recently learned some interesting news concerning the gene replacement trials and other future endeavors involving Leber's Congenital Amaurosis (LCA) from a mom whose son is seen by Dr. Koenekoop in Canada.
Now, it's important to remember that this is being related third hand and I don't have scientific papers to back it up, but I like to look at it as cutting edge news you can only get from parents, patients, and doctors.
Dr. Koenekoop discussed the progress of gene therapy trials involving the CEP290 gene. He said that they are currently attempting to do gene therapy on CEP290 affected mice, but he explained that the CEP290 gene is a much larger gene than RPE65, so they are experiencing a challenge finding a virus host large enough in which to insert healthy genetic material.
The CEP290 gene is about ten times larger than the RPE65 gene. Despite this, Dr. Koenekoop said that things are going well. He still feels that they are about five years away from doing the human clinical trials on CEP290. That's great news!
Dr. Koenekoop also discussed the recent case of an RPE65 gene therapy treated woman who developed a new fovea at the point of insertion of the genetic material. He seemed very excited about this unexpected result.
This mom also met a little six-year-old boy who was in the office to be screened for inclusion in a new trial for RPE65 patients that will see the patients taking a pill, instead of having surgery, to deliver healthy genetic material to the eye. Dr. Koenekoop reported that dogs that have been treated this way have had very encouraging results. This sounds incredibly promising!
Dr. Koenekoop also mentioned that he and others working on these trials are always looking for funding. He said that we can make direct donations to his clinical efforts through the Montreal Children's Hospital.
Hi Amber, I have to say that for the past year or so, I've been periodically checking out your little blogs and your information about the cutting edge research on LCA is exciting to say the least.
Am I correct in remembering that you have a son with LCA? If so, what's in store for him as things progress?
I myself have LCA and am looking forward to taking part in the trials for the GUCY2D gene when those trials take place.
I went to see Dr. Koenekoop a couple of years ago and he seemed amazed that my eyes were in such good shape considering I'm in my late 30's.
We found out that I might be able to see more than I thought I could but because of the once incurable state no one really persued teaching me colors or anything else for that matter. We found that I could see the difference betwixt white and red light and that I could make out large forms in areas lit just so but I'm getting carried away talking about myself.
I wanted to thank you so much for your efforts in researching the progress on LCA but also for putting up your blogs and as I said earlier, I enjoy reading them.
Keep up the good work and again, thanks-thanks-thanks a thousand times thanks...!/