Investigating Stargardt: RNA, gene therapy options for patients


Dr Carel Hoyng divulges the main takeaways from his Angiogenesis presentation, including the origins of Stargardt disease, correct diagnosis, ongoing gene therapy trials and the future of therapy.

Dr Carel Hoyng discusses his presentation at the Angiogenesis, Exudation and Degeneration meeting hosted by Basom Palmer. Entitled “Stargardt Disease, Towards Therapy,” Dr. Hoyng’s presentation explored the origins of Stargardt disease, proper diagnosis, current gene therapy trials and RNA therapy options.

Video transcript

Caroline Richards: Thank you for joining me today, Professor Hoyng, to discuss your presentation at the upcoming Angiogenesis meeting. Firstly, what are the main takeaway points from your upcoming presentation?

Dr Hoyng: The main takeaway points from my presentation are that Stargardt's disease is the most common inherited retinal disease caused by a single gene. However, due to the difficulties of this gene—it's very large, it doesn't fit into an AAV virus—gene therapy until now, has not been undertaken at this moment. No trials in gene therapy.

There are a few trials that have a pharmacological approach by, for example, slowing down the visual cycle, which has a lot of times possible side effects. And we have undertaken now the efforts to make an RNA therapy, which is now called in United States ASO, antisense oligonucleotide, therapy to—with small molecules to repair the RNA. We are now in preclinical phase of research.

Caroline Richards: That's very interesting and how might the topics from your presentation be applied day to day?

Dr Hoyng: One topic—subtopic—of my presentation, but very important, is that a lot of Stargardt's disease are not recognized properly.

So we know that the traditional picture of Stargardt's disease by a flecked retina and in children, but there is a part of Stargardt's disease that occurs in adults and is not recognized properly always. And is diagnosed mostly as dry AMD, which it is not. It's Stargardt's disease, and we have solved nearly all the genetic mutations in these patients.

So about 1/3 of patients with Stargardt’s disease are late-onset Stargardt's disease and should be recognized as that.

Caroline Richards: What are the next steps for this research?

Dr Hoyng: In our research in where we try to repair the RNA mutations, the next step is that we will go into clinical Phase 1/2, and probably in about a year. And so that are the next steps at this moment. We are in talk studies. And the next step is to go to in-patients.

Caroline Richards: That's excellent. And finally, what are you most excited about in this field?

Dr Hoyng: In the total field of inherited disease, I am very excited that therapies are really coming on the market now. So all these kids that get blind by all different kinds of inherited retinal diseases. Now, in the near future, there will be therapies. And that's very exciting. I think one of the most exciting fields at this moment in ophthalmology.

Caroline Richards: Indeed. Well thank you very much for that short interview. It was most interesting.

Note: This transcript has been lightly edited for clarity.