Before sitting down to type this article, I stumbled upon notes I had taken while attending my first Foundation Fighting Blindness (FFB) Visions conference back in 2007 in Kansas City. Buried in those notes, I had jotted down more questions than answers pertaining to the science of combating retinal degenerative diseases. These were questions the researchers and the FFB were struggling with themselves, such as is it always necessary to get genetic testing?; Is it possible to deliver gene therapy for diseases involving very large genes?; What is the potential for stem cell therapy to restore vision and can the barriers to its progress be overcome?; Which therapy or therapies should I follow, given the fact that my Stargardt Disease has already robbed the normal function of my central vision?
Knowledge can be empowering but you have to be willing to ride the roller coaster and take the ups with the downs, all the while fully appreciating the scientific process. I remember coming out of some of the 2007 scientific sessions alternately feeling so close and then so far away from stopping or reversing the progression of my disease. That was O.K., I’m living well with it, but I still wanted to ride out the scientific tidal wave that seemed to be emerging. After learning of successful gene therapy on dogs followed by successful therapy on humans with Leber Congenital Amaurosis (LCA), my siblings and I submitted blood samples to the eyeGENE® program. In 2009, we learned that no mutation of the “Stargardt” (ABCA4) gene was found. This was a bit disappointing since gene therapy is really evolving.
Turn time ahead five years to the 2012 Visions conference in Minneapolis. After attending every session I could at, I returned home with a lot of hope. Many of those questions I jotted down in 2007 have now been answered. Genetic testing is still very important given that new mutations are found every year. The mutation must be known before “classic” gene therapy can be recommended. But through a new field of research and therapy called optogenetics, there is now hope in eventually being able to treat diseases that cannot always be pinned down to one specific gene mutation, such as Retinitis Pigmentosa (RP). And for other diseases such as Stargardt or AMD, newly emerging stem cell therapy looks promising.
The conference’s closing session on Sunday built upon the science and “Doctor Is In” sessions that preceded it. First, Dr. David Wilson of the Casey Eye Institute spoke of ongoing human gene therapy trials for LCA, Usher Syndrome and Stargardt Disease. In these trials, they are delivering different virus vectors to the retina, depending on the size of the replacement gene. While the trials are going very well, Dr. Wilson stressed the importance of our continued optimism, patience, and involvement as they move forward with the research.
For those with LCA or RP caused by a mutated RPE65 gene, Dr. David Saperstein, a vitreoretinal surgeon at Vitreoretinal Associates, spoke about the success of using an oral drug to help restore the proper metabolic process in the retina. How simple is that? Some patients have experienced dramatic improvement in both visual acuity and visual field; they’re expecting FDA approval as soon as 2014.
And as for all those looming questions and obstacles about stem cell therapy in 2007, Dr. Matthew Vincent of Advanced Cell Technology, sponsor of current Stargardt and AMD clinical trials, really hit a homerun as well. He explained exactly how the study’s stem cells were obtained, and how healthy RPE layer cells were derived and stored. These cells have successfully oriented themselves in humans, improving vision for even those with very late stage degeneration. When Dr. Steve Rose of the FFB says that “it is really a tremendous time in the field of retinal degenerative diseases and the progress that is being made is astounding”, you know there is every reason to be optimistic, patient, and interested.
As usual, there was much more to the conference than the exciting, amazing science – positive coping skills and networking opportunities were also served up. You can learn more about the research I have discussed as well as snippets of the most inspiring speeches I’ve ever heard on Dr. Rose’s Eye on the Cure blog. Be sure to read about Paul Keros in Turning Suffering into Hope as well as the incredible stories from Erik Weihenmayer’s journeys in Adventures in Mountain-Climbing and Research. And I can really relate to John Corneille’s daily struggles in Putting Myself to the Test.
And of course, to learn more about current clinical trials, go to www.clinicaltrials.gov.