Our Turn is Coming

Happy Monday! Waiting for the van again so forgive me if I run off abruptly.

Back to the pink of health. I revised my evaluation and decided it was food poisoning….again?!?! My dining companion ate her leftovers and also got sick as the proverbial dog.

I was well enough yesterday to accept an invitation to go kayaking. Said if before, say it again, weird weather. There was some guy jet skiing on October 16th! Anyway, it was fantastic to be on the river. Warm breeze. Birds calling. Fishermen shouting greetings across the water. Kids on the bank asking me if it were nice out there. Yeah. It was. Really nice.

To business! I promised you RPE65. The Genetic Home Reference tells us RPE65 is also called retinoid isomerhydrolase. Yeah, whatever. RPE65. RPE65 is responsible for providing instructions for a protein we need to see. It is, obviously, part of the RPE layer.

As I said last time, RPE65 is essential in the visual cycle. Light changes a special molecule called 11-cis into a different substance. Since it is no longer any good for changing light into electricity in its new form, it has to be ‘recharged’ so it can go back to work. That is the job of RPE65.

With me so far?

Failure to convert the end product of the reaction – referred to as all-trans-retinal – leads to a build-up of said all-trans retinal as a waste product and a toxin. In my terminology, it is part of the eye poop. Your visual cycle also stops working. Not good.

Now, I am not saying we AMD folks have problems with faulty RPE65 genes. (Although we might. I am only a dabbler in the field.) Those mutations are found in diseases like Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP). What I am saying is every breakthrough in one aspect of vision research might lead to breakthroughs in other areas and – drum roll please! – there has been a breakthrough!

Not all that far away from me, in the City of Brotherly Love, also known to us country folk as ‘Filthydelphia’, Philadelphia to all you other folks, they have found a way to ‘reprogram’ faulty RPE65 genes using gene therapy. Philadelphia is on a roll because this is the second gene therapy its researchers have had recommended for approval. That is the second of two, mind you, EVER recommended for approval by the FDA. Philly researchers have gotten them both. One more and they will have a hat trick! (Go, Flyers!….OK, so their decades were the 1970s, ’80s and ’90s, but it could happen again.)

The first gene therapy recommended for approval was for leukemia. The visual cycle gene therapy is called Luxerna. It is going to be offered to children with early onset blindness in a bid to keep their photoreceptors functional. It has a very high success rate and is still working in phase 1 subjects from four years ago! [click here for an article that talks about this in more detail.]

So what happens now? Luxerna has been cleared to take the final hurdles. According to FDA.gov there are three more steps in a 12 step process. These steps are as follows: review of labeling information, inspection of manufacturing sites, APPROVAL.

Brave New World. Stay tuned. Our turn is coming.

written October 16th, 2017

Next: coming soon!

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