Results from Universities of Pennsylvania and Florida Study Reaffirms LCA Gene Therapy Potential

Three young adults with Leber congenital amaurosis (LCA) receiving gene therapy in a Phase I clinical study at the University of Florida and University of Pennsylvania demonstrated improved vision in dimly lit settings. The gene therapy was also shown to be safe for all three participants, who were ages 21-24.

Initial results of the study were published today in an online edition of the journal Human Gene Therapy. Additional findings from the study will be published shortly in the Proceedings of the National Academy of Sciences.

The LCA gene therapy under investigation at the Universities of Pennsylvania and Florida is similar to

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the LCA gene therapies in Phase I clinical studies at The Children’s Hospital of Philadelphia (CHOP) and Moorfields Eye Hospital in London. Results from those FFB-funded studies were published in the New England Journal of Medicine last April. All three participants in the CHOP trial reported improved visual acuity and better vision in dimly lit settings. One of three participants in the Moorfields study showed improved vision, as well.

“We are very pleased with the initially reported results of the LCA study at the University of Pennsylvania and University of Florida,” says Stephen Rose, Ph.D., Chief Research Officer, Foundation Fighting Blindness. “Of course, we are delighted to see some improvement in vision. However, the main objective in all these Phase I studies is to demonstrate safety, and they are doing just that. With safety established, we can move the treatments into more people and younger people. And we hope to see even more dramatic improvements in vision as the studies advance.”

In all three studies, the participants have a form of LCA that is caused by variations in the gene RPE65. LCA is a severe form of retinitis pigmentosa that causes blindness or severe vision loss in young children. Thus far, 12 different genes have been linked to LCA.

Though the treatments in the three studies are similar, there are some differences in the location and amount of gene therapy vector injected under the retina, as well as the promoter used to activate the gene. Promoters control gene “expression” — the amount of protein that the gene instructs retinal cells to make. Researchers want to identify a promoter that will lead to just the right amount of produced protein — not too much and not too little.

“We will learn different and complementary things from each of the three studies, and ultimately, researchers will be able to develop a better treatment using information from all of these clinical trials,” says Dr. Rose. “The bottom line is that multiple studies should lead to a more optimal treatment, and ultimately, a better opportunity to save and restore vision for patients. Also, continued success in these LCA studies will pave the way for developing gene therapy to treat other forms of retinitis pigmentosa, Usher syndrome, Stargardt disease, choroideremia, retinoschisis, and a variety of other retinal degenerative conditions.”

This University of Pennsylvania-University of Florida clinical study is being funded by the National Eye Institute. The Foundation Fighting Blindness funded much of the preclinical work that made this clinical effort possible.

Samuel G. Jacobson, M.D., Ph.D., of the University of Pennsylvania, is the study's principal investigator. Shalesh Kaushal, M.D., Ph.D., of the University of Florida, is the study’s lead surgeon. William Hauswirth, Ph.D., of the University of Florida, is the lead developer of the gene therapy.

This research breakthrough is made possible through generous donations from people like you. If you would like to send a donation to the Foundation Fighting Blindness and help us fund the research that will one day find a cure, click here.

High Technology For Low Vision

This article was posted in the Wall Street Journal on Sept 9th, 2008

http://online.wsj.com/article/SB122091525305212313.html?mod=hpp_us_inside_today

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Windows 7

Microsoft talks about the next version of Windows. Check out the Windows 7 Blog:

http://blogs.msdn.com/e7/

U.S. Unveils 2009 Louis Braille Silver Dollar

As you can see from the time of this post, I’m once again up late. I was hoping to catch the US Men’s Senior National Basketball Team play Angola on replay, but I can't find it. I have 500 cable channels and not one is replaying the game! So, I thought I would add one more piece of interesting information.

On July 2 2008, the U.S. Mint unveiled the design of the 2009 Louis Braille Bicentennial Silver Dollar at the National Federation of the Blind's annual convention in Dallas, Texas. The Braille Silver Dollar is the first coin minted in the United States to feature readable Braille characters. The coin will go on sale in the spring of 2009, the bicentennial anniversary of Louis Braille's birth.

Introducing ZoomWare

Press Release:

Ai Squared is proud to announce the release of ZoomWare, our replacement for BigShot Magnifier. To learn more about ZoomWare simply click the play button below to watch a video demonstation of ZoomWare in action.

If a friend or family member is suffering from early vision loss or simply the stress and fatigue that comes with everyday computer use ZoomWare can help. Go to www.getzoomware.com/download to download a trial today!

Pricing:• Domestic (US+Canada) Download: $149• Domestic (US+Canada) Shipment: $175• International Download: $229 • International Shipment: $265

Call your local dealer for more information...

Mobile Phone Accessibility

One of the hottest topics right now is Mobile phone accessibility. I probably take a dozen calls a week with questions regarding screen readers and screen magnification for mobile phones and PDA's.

I currently use TALKS&ZOOMS on my Moto Q and Mobile Speak on my Nokia N82. I’ll be posting a review of both products next week.

Check out the following links to learn more:
http://www.nuance.com/talks/
http://www.codefactory.es/en/

Duxbury Braille Translator Adds Enhanced Math Support

This is not necessarily new news, but most of my teacher colleagues are on vacation right now and I want you all to catch this. If you are a student or a teacher of the visually impaired, the new features could make your life easier.

http://www.duxburysystems.com/news.asp#press

Freedom Scientific Releases PAC Mate Omni™ 6.1

Freedom Scientific recently announced the release of version 6.1 for the PAC Mate Omni. If you are looking for a device that runs Windows Mobile 6, then the PAC Mate might be a good choice. Version 6.1 has added Braille Features and the the ability to read PDF files. A link to the press release is listed below:

http://www.freedomscientific.com/news/pressroom/2008/PACMate61-released-8-4-08.asp

Blind users of VoiceNote, BrailleNote, mPower, and BrailleNote PK notetakers can upgrade to a PAC Mate. Check out the details at:

http://www.freedomscientific.com/news/pressroom/2008/PACMate-Open-Plan-Trade-in.asp