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WE PUSH FOR THE BEST RESEARCH, SO THAT PATIENTS BENEFIT THE MOST

Stephen Rose, Chief Research Officer Foundation Fighting Blindness

Stephen Rose

The work we do at ProQR would not be possible without the help from patient organizations and foundations. One of our main supporters is the Foundation Fighting Blindness (FFB), who generously provided 7.5 million dollars of funding for the clinical development of QR-421a, our drug candidate for Usher Syndrome. We checked in with Stephen Rose, Chief Science Officer at FFB, to talk about their perspective.

The Foundation Fighting Blindness is a strong force in research funding when it comes to blindness. How does the foundation approach this?

“With everything we do, the interest of patients is our top priority. We actually are the world’s leading private funder of inherited retinal disease research, spending 20 to 30 million dollars a year on research and clinical trials. But that doesn’t mean much if patients don’t benefit from it. So we select carefully and try to bring research into blindness and retinal degeneration further. To achieve this, we have an application process for our grants, and pull in outside subject experts from all over the world to help us select the best ones. We really want to pick groups and companies that have a good chance of succeeding.

As Chief Science Officer, it’s my personal job to facilitate the ongoing research, to tackle upcoming problems and to make sure we get optimal results. Because it doesn’t stop after granting an application for funds. We keep pushing for the best preventions and cures, so that blind people benefit the most. If we don’t get the most bang for our buck, it’s just a waste of funds.”

What kind of collaborations do you pursue?

“If you talk about research focus, we don’t believe in any particular type of drug. The diseases causing blindness are as diverse as the mutations that cause them, and there is no silver bullet that will take care of it all. We therefore consider gene therapy, gene editing, RNA therapy – they all have potential. We also look at other diseases for inspiration. Take Parkinson’s disease or Alzheimer’s disease for example. These are brain-related, so they are based on neurobiology just like retinal diseases. The eye is the window to the brain and as such, understanding neurobiology has implications for both brain and retinal diseases.

In terms of partners, if it’s companies for the clinical development, we aim for parties that have a proven track record in safety, and that have been able to bring something to the clinic or even the market. When it’s researchers we scrutinize their science. We want the scientists we support to succeed. The group in Nijmegen, at Radboud University, is a good example. They belong to the best groups in the world, and have been an FFB center for years, receiving many investments from us. We actually funded their research that is now being taken to the clinic by ProQR as sepofarsen, which has gotten some very nice results. Still preliminary, but looking very promising. It’s important to get that proof of concept. Now we know that RNA therapies have the potential to do what we believe it will do in treating these diseases.”

How about the developments with QR-421a for Usher syndrome?

“Well, it’s not as far as sepofarsen, but the collaboration with ProQR so far has been fantastic. They’re transparent, forthcoming and I’m impressed with their level of professionalism. They really know how to bring something to the clinic with a high regard for safety. We’re actually looking at additional projects to work on together.”

Do you feel like they mirror your high regard for patients?

“Definitely. They really go the extra mile to ensure safety. My personal yardstick is whether I would put my own children in a trial. If I can’t say that, then I don’t want to be involved. And with ProQR, the answer is ‘absolutely.”

You seem to have a strong personal connection with the foundation’s cause…

“I do – I have two actually. I have a relative with a rare inherited form of retinal degeneration, and the more common age-related macular degeneration runs in my family. I participate in a clinical study because of this, and I can tell you – some of those tests are not a lot of fun! But it means that I have an appreciation for the tests that patients are required to complete in order participate in our studies, and that motivates me to really think about when tests are necessary and why. On a higher level, we often don’t realize how much we use vision – it’s underappreciated. Blind people have to learn everything by heart, like the layout of their apartment or the way to the shop, and they rely on others to help them by putting stuff back in the same place every time. Can you imagine what happens if someone carelessly leaves the dishwasher door down? We organize ‘dinners in the dark’ as a fundraiser, and it’s really powerful for donors to have to learn that the potatoes are at six o’ clock on their plate, or to keep track of their glass of water.”

Do you engage patients outside of studies?

“Yes, and it’s amazing how this has changed since the foundation started in 1971. In the beginning, we looked at blindness as needing one cure. But now we know there are hundreds of different reasons, mechanisms and varieties of retinal degeneration. Obviously a big part of this is genetics, so we provide programs for patients to test for known genes, but also to identify new mutations. We still find new ones every year.”

How do you see the future for blind people?

“I’m cautiously optimistic. We’ve been going at it for almost half a century, but the last five years the advances have been out of proportion, really great. It’s also hard to be specific. Will we find therapies for everything? That’s a tall order. Will we be able to slow the progress of diseases? No doubt. Even in the quest for the Holy Grail, which is regrowing the retina from stem cells, we are making progress – even though it has a way to go. In the end, it’s our job as a foundation to go out of business.”


What are IRDs?

Inherited retinal diseases are a collection of rare retinal degenerations or retinal dystrophies, in which a genetic mutation causes loss of function or death of the light sensitive (photoreceptor) cells in the retina. Most common IRDs include retinitis pigmentosa, Usher syndrome, Leber’s congenital amaurosis and Stargardt’s disease. They represent the most common cause of severe visual impairment or blindness in children and people of working age. It is estimated that IRDs affect more than 2 million people worldwide. To date, around 300 genes have been identified that can cause IRDs when mutated. For the vast majority of IRDs no therapy is currently available.



Source: ProQR’s Annual Magazine 2018-2019

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