Voretigene neparvovec

There are in vivo gene therapy drugs that are also available.

For instance, there is one for an inherited form of blindness, which is called Luxturna.

And Luxturna also has been developed in Europe and in particular in Italy because our institute, the Teleton Institute of Genetics and Medicine and the Ophthalmology at the University of Naples have made a major contribution to the clinical development of this drug.

All these drugs that are mentioned, they are available to patients now.

So they have basically been approved.

In this context, genetic therapy advances in other areas have paved the way for the development of targeted therapeutic strategies to restore the function of mutated genes in retinal diseases.

Since the approval of voretigene neparvovec, which is the first approved, uh, ocular gene therapy, I think advances in mo- molecular genetics and genomic sequencing technologies have enabled the identification of more than three hundred and forty genes associated with inherited retinal diseases or IRDs.

And this has substantially improved our understanding of underlying disease mechanisms, accurate genetic diagnoses, and access to clinical trials.

Thank you very much, Cynthia.

Gene augmentation is what we know the most and has been on the market the longest.

It's mainly used for monogenic, recessive, or X-linked diseases that involves the introduction of a functional copy of a gene.

And this is what, uh, voretigene neparvovec acts on.

Gene editing may be used for now dominant, uh, mutations, and this employs CRISPR-Cas9 technology to directly modify disease-causing DNA sequence.

So really starting the foundation was a decision after looking around at many different other points of evidence in the science and other therapies.

Specifically in retinal disease community several years prior, Luxturna had come out, which was, uh, one of the first gene therapies ever, and it addressed a very similar type of retinal disease to what I have.

And so seeing that that was really successfully helping patients and, more importantly, safely helping patients, um, over many number of years, uh, that was one key point of evidence that- Hey, you know, where's my therapy? Like I, I think something like that might be possible for me and my family and others that have our specific type of, of disease.

Um, then to the second part of your question, why start a foundation? Why not just wait for, you know, a biopharma like Spark, who created that Luxturna drug, to come along and do this themselves? You know, that's the same story that many, uh, in our community, many of your listeners understand deeply, which is there simply isn't a market for ultra-rare.

Um, KIZ specifically as a gene has a roughly, uh, estimated population of about two hundred to three hundred patients globally.

Uh, and so that just simply isn't enough to justify the investment.

It would never make sense for a traditional pharma player.

That's why we decided to take matters into our own hands to really assemble a very similar therapy, but in a nonprofit setting.

And that didn't exist ten years ago, so that changes the dynamic right there.

Um, you know, the-- we look at stuff like, uh, Luxturna and, um, Zolgensma, what we started with, the first two, and today there's probably, who knows, thirty of them out there that could potentially hit us, although granted that the utilization's gonna be very small.

But we at some-- When we put together products, we have to somehow consider these, um, and, and the pipeline's just getting bigger.

These gene therapies will be ubiquitous eventually.