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In this PER On Air Ophthalmology Times podcast, an expert panel discusses the latest advances in X-linked retinitis pigmentosa and how to optimize diagnosis as well as developments in gene therapy. 

Latest advances in X-linked retinitis pigmentosa: Optimizing diagnosis and developments in gene therapy

In this episode of EyePod, David Hutton sits down with Neena Haider, PhD, and Arun Upadhyay, PhD, to talk about modifier gene therapy.

EyePod: Modifier Gene Therapy: What is it?

In this EyePod® episode, David Hutton sits down with Shankar Musunuri, CEO of Ocugen to discuss updated data for OCU400. 

This transcript has been edited for clarity.

Welcome to EyePod, a podcast series from Ophthalmology Times in which we engage with key opinion leaders in interviews about the latest innovations in the areas of surgery, clinical diagnosis, therapeutics, imaging, device technology, gene and cell therapy, practice management, and other cutting-edge topics. I'm your host, David Hutton. Welcome to another edition of the EyePod Podcast. I'm joined today by Dr. Shankar Musunuri, CEO of Ocugen, to discuss updated data for OCU400. Currently in phase 1/2 clinical trial for the treatment of retinitis pigmentosa. Can you tell us about the latest data for OCU400?

Yes, David, thank you for having me today. And I'd like to summarize the latest data we released recently. OCU400 continues to demonstrate a favorable safety and tolerability profile as an investigational drug product. I think it looks promising. It also continues to show clinically positive trends from multiple endpoints [inaudible]. Remember, retinitis pigmentosa is a very complex disease. And currently, we are looking at multiple mutations because we have a gene agnostic approach. So I will highlight the data – 83% of subjects demonstrated preservation or improvement in the treated eye, either with BCVA, or LLVA. BCVA refers to Best Corrected Visual Acuity, and LLVA stands for Low Light Visual Acuity. 

Also, MLMT, which is a mobility course. So that's promising. I think it's important for people to understand that stabilization of a signal in this population is really good. Because typically, when you get any drug approved, you're reducing degeneration compared to the control group. That's how you get the drug approved. So if you're really stabilizing the signal, stopping the progression, that itself is a good sign. And if you're improving, that's even better, right? So from where you are, in that respect, 83% of subjects showed either preservation, meaning stability, or improvement in signals using these multiple endpoints. Seventy-five percent of them have shown improvement or stabilization with the mobility course. The mobility course is used in one of the approved products. 

Only one gene therapy product, Eyespace, got approved about five years ago. Eighty-six percent of rhodopsin patients showed stabilization or improvement using either MLMT course. So that's very important. Why? Because we have a gene agnostic approach. We are testing in patients who don't have an R2E3 gene, which is the gene we're trying to give using the OCU400. They don't have a defective R2E3. This is a rhodopsin mutation. So that's really important. It is demonstrating efficacy, a trend in patients in a gene agnostic approach. That's very important for people to understand.

What do these results mean for the company and its efforts with OCU400?

These results are very encouraging. Number one, we've looked into many patients to date now. And number one, safety is good. So that's number one. Some of the patients have reached almost 12 months point, which is important. The next most important thing is we continue to see positive efficacy trends. As I mentioned, most of these patients, about 100,000 patients in the US, are struggling with retinitis pigmentosa. Many of them, if untreated, by mid-40s, they may become legally blind. It's a really devastating disease. 

And they're really in desperate need. And if you're showing a favorable signal, stabilizing the signal or improving using multiple endpoints, that's very promising. So that will allow us to assemble the data sometime this year. We want to really discuss this information with the FDA. Using this data, we're going to design our phase three clinical trial and go to agencies and discuss with them by the end of the year and see if we can get an agreement to move into Phase Three clinical trial. That's really important, right? Because remember, phase one, two clinical trials, the primary endpoint is efficacy, safety. So if you're seeing an efficacy signal in these patients using multiple endpoints, that's very promising. It is also showing in patients in an agnostic approach and relapsing, other mutations, other R2E3. 

So those are the key points to remember. Typically, in phase one, two trials, you take late-stage patients who have a disease which progressed in a way into a really advanced stage. Sometimes if you talk to the experts, they're surprised. They don't expect much improvement in the patients. But they're seeing good signals in these patients, too. So that's very encouraging to hear from experts. So, in a nutshell, this data is encouraging. We're putting a package together to discuss with agencies to see if we can get an agreement to move into Phase Three.

And ultimately, what could this treatment option mean for ophthalmologists and the patients they treat?

Yeah, this could be very beneficial. Let me talk about retinitis pigmentosa. Under retinitis pigmentosa, there are many retinal diseases. This is an orphan disease with about 100,000 patients in the US. There is another segment called Leber congenital amaurosis. We're recruiting patients up to 90 between the two of them. There are about 125 genes which can get mutated. So if you take a traditional gene therapy approach, you have one product covering the RPE65 gene in the market. That is in less than 1,000 patients in the US. That's one out of 125. So how about the remaining 124 mutations and over 100,000 patients sitting there? How are they going to get the rescue? It's almost impossible for pharmaceutical companies to develop 124 products to treat all those patients.

 So that's where we come in. This is a modifier gene therapy. These are like Master genes in the retina. They have the ability to control the functional networks, from cell development, inflammation, metabolism to survival. They create a homeostasis, the receptor homeostasis at a molecular and cellular level, and restore the function. They also create a healthy environment for cells to survive. That's really important. That's why, because of that, these genes we can target. A gene agnostic approach has the potential to treat all these patients with these 125 mutations. So what it means is for ophthalmologists and patients, this is very significant for them. 

There is hope out there if this treatment works, and they continue to work in phase three in multiple mutations. This has the potential to address this big disease burden. This is a big deal because people are thinking of single mutations in 500 patients, 2,000 patients. Rhodopsin itself has over 10,000 patients. This is not an easy mutation to treat with rhodopsin mutations. That's itself what we're testing right now, and R2E3 mutations. And that itself is big. So there is hope for the patients and physicians. If you continue to progress into phase three, and we potentially get to the other side and get good results. This treatment has the potential to treat all these patients who are desperate and in desperate need for rescue.

And lastly, you pretty much hit upon this. But let's recap. What are the next steps for OCU400?

The next steps are, obviously, we're progressing well in clinic. With the data we have on hand, we're going to discuss with agencies like FDA, and with our Phase Three design. So if they do agree, our goal is to move this to phase three, as we announced late this year and early next year. So that will be a controlled trial, looking into multiple mutations in phase three. What it means is our bigger goal is to get a broad indication for retinitis pigmentosa and LCA, covering all these mutations. Obviously, we do have orphan drug designations covering those broad indications like RP and LCA. So those designs have to align with FDA and ensure they're comfortable with our design. 

If we reach an agreement, we're going to go into phase three. The bottom line is to initiate phase three as soon as possible. Typically, these studies run for a minimum of one year duration, just like the first product which got approved. They did a one-year endpoint. So sometimes they may need a little longer depending on the mutations. All those things will be discussed with FDA. In a nutshell, the next steps are getting in alignment with FDA and potentially initiating the phase three clinical trial at the end of this year or early next year. So that this product will be available in the market if everything goes according to our plan by 2026.

Thanks for listening to this episode of EyePod by Ophthalmology Times. If there are topics you would like to hear about, let us know. You can also stay connected with us on Twitter, LinkedIn, or Instagram. We'll see you next time.

Eyepod: Ocugen CEO gives update on OCU400

In this episode of EyePod, Ora Clinical’s Keith Lane offers a brief overview of the current state of ophthalmology and its standardized endpoints. He also discusses some of the challenges that gene therapy has faced, particularly in relation to ophthalmology. He also offers his outlook for the future of gene therapy. 

The changing landscape of gene therapy and standardized endpoints

Kriya is developing gene therapies targeting chronic diseases such as geographic atrophy, trigeminal neuralgia, and type 1 diabetes.

Kriya Therapeutics raises $313.3 funding

Best disease, or vitelliform macular dystrophy, is a rare, inherited retinal condition causing macular degeneration by mutations in the BEST1 gene, leading to progressive vision loss and, in some cases, blindness.

FDA clears IND for Opus Genetics’ OPGx-BEST1 gene therapy for inherited retinal disease

AAVB-039 is the company’s gene therapy program for Stargardt disease secondary to biallelic mutation in ABCA4.

FDA grants fast track designation to AAVantgarde Bio for AAVB-039

Ophthalmology celebrates 50 years of groundbreaking innovations, highlighting anti-VEGF therapies, OCT imaging, and future advancements in eye care.

From blindness to breakthrough: Milestones that changed ophthalmology forever

These updates support Ocugen in its efforts to pursue its goal of 3 biologics license applications (BLA) in the next 3 years.

Ocugen announces appointments to retina scientific advisory board and executive leadership team

Part 2: Biggest innovations in ophthalmology in 50 years

In celebration of Ophthalmology Times 50th anniversary, we asked leading experts in the field what they see as the biggest innovation in ophthalmology in the last 5 decades.

Editor's note: The below transcript has been lightly edited for clarity.

This precedes my time, but I think probably, from what I understand, OCT, I would agree. Optical coherence tomography probably changed our ability the most to see diseases, categorize them appropriately, and then determine who needs treatment. But I think what revolutionized treatment the most thereafter would be the anti-VEGF agent, the biologics. So now, with those 2 innovations, we're able to identify the correct patient and give them the correct treatment to help save vision. And I think we've been able to do that for a huge, huge number of people across the world.

So I think one of the biggest advances is the advances in imaging techniques that we have. We now have portable handheld OCT devices. We have fundus photos with [fluorescein angiography, or] FA and OCT capabilities combined. We are coming out with other advances in OCT findings at the University of Michigan that hopefully will be on the pipeline soon. So I do think in retina overall, and especially in pediatrics, we are advancing in our imaging capabilities, which allow us to diagnose and manage patients better.

I think probably the development of OCT, optical coherence tomography, is, I would say, certainly at the top there. It is a very rapid, very information-rich testing modality that's noninvasive, relatively inexpensive, gives us an entirely new insight into retinal diseases. So that would be my choice on the diagnostic side of things. And then, of course, being a specialist in inherited retinal diseases, I'm biased toward that field. And so I would say that the development and FDA approval of Luxturna's gene therapy for RPE65 associated retinal degenerations is absolutely the biggest breakthrough, at least in my part of the ophthalmology field.

I think there have been so many innovations over the past 50 years, it's hard to really name just one. I think one game changer, and that was not something recent, is laser trabeculoplasty, because it really opened a new venue of treatment for patients that can be done in the office setting. It's safe, it's efficacious, and it can be first-line treatment for patients as well. Of course, now we have the many other innovations like MIG surgeries or minimally-invasive bleb surgeries, as well as the medications that I mentioned before that I'm very excited about, things that can be implanted or injected. But I think laser trabeculoplasty definitely ranks amongst ones of the top, one of the top innovations in the past 50 years.

Videos

Anat Lowenstein on the ENCELTO FDA approval

The recent approval of revakinagene taroretcel-lwey (ENCELTO) from Neurotech Pharmaceuticals

 for the treatment of Macular Telangiectasia type 2 (MacTel), a currently incurable eye disease, is expected to have a significant impact on the treatment landscape. 

According to Anat Loewenstein, MD, the approval of this new treatment will be "a wonderful situation" for both retina specialists and patients. It will finally provide a way to treat this previously untreatable condition, offering hope to those affected. 

The approval is also anticipated to further increase awareness and diagnosis of MacTel among ophthalmologists globally. While the MacTel Research Foundation has already done substantial work in raising awareness, Loewenstein believes the availability of an approved treatment will drive even greater recognition of the disease within the medical community. Overall, the approval of ENCELTO represents a significant breakthrough in the management of MacTel. It is expected to transform the treatment landscape, benefiting both patients and the ophthalmologists who care for them.

ENCELTO is the first and only FDA-approved treatment for MacTel.

Anat Loewenstein comments on the recent FDA approval of revakinagene taroretcel-lwey (ENCELTO) for macular telangiectasia type 2 treatment

AGS 2025: Telemedicine and genetics for resource-efficient care with Louis R. Pasquale, MD

Louis R. Pasquale, MD, highlighted two patient case studies during a Friday morning symposium at the 2025 American Glaucoma Society Annual Meeting, held from February 26 to March 2 in Washington, DC, emphasizing new approaches to managing glaucoma and advancing clinicians’ understanding of genetic risk factors.

In the first case, Pasquale discussed a patient who developed rapidly progressive primary open-angle glaucoma (POAG) and lost vision in one eye while under the care of another specialist. Despite IOP in the high teens, he initially believed that lowering the IOP to the low teens would halt further progression in the remaining eye. However, progression continued, even with normal clinic measurements. This led to the use of remote tonometry, specifically the iCare HOME device, which allows patients to measure their own IOP at home. Pasquale highlighted that pressures often peak in the early morning hours, revealing unexpectedly high IOP readings of 24 mm Hg in the right eye and 22 mm Hg in the left, which were not observed in the clinic. This finding prompted surgical intervention, illustrating the utility of remote tonometry in detecting pressures that may otherwise go unnoticed during office visits.

In the second case, Pasquale discussed a patient with borderline glaucoma changes, normal IOP, and a family history of glaucoma. He introduced the concept of genetic risk scores for glaucoma, which have proven to be a better predictor than family history. In this case, the patient’s genetic risk score indicated a high likelihood of developing glaucoma, prompting more frequent follow-up. Over time, the patient developed a disc hemorrhage, confirming the need for treatment. Pasquale emphasized research showing that individuals in the highest 10th percentile of genetic risk have a significantly higher chance of developing glaucoma. Genetic risk scoring, currently being refined, could revolutionize early glaucoma detection and management, providing a critical tool for identifying patients who may require surgical intervention.

Pasquale also highlighted that new research on genetic risk scores for glaucoma will be further discussed at the upcoming 2025 Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting, May 4 to 8, 2025 in Salt Lake City, Utah.

Emerging technologies, such as remote tonometry and genetic risk scoring, are revolutionizing glaucoma care by enabling earlier detection, personalized management, and more efficient use of resources.

Envision Summit 2025: beyond the status quo in gene therapy

At the Envision Summit 2025 in San Juan, Puerto Rico, Mike Farkas, MD, discussed gene therapy research for retinal degenerations that sidetracks the current "status quo" therapies of AAV-based replacement and CRISPR-Cas9 genome editing. 

I'm Mike Farkas, I'm an associate professor at the Department of Ophthalmology at the University of Buffalo. Our work focuses on gene therapy for retinal degenerations, but specifically side tracking the current, what we call status quo therapies of AAV-based replacement and CRISPR-Cas9 genome editing. 

So what we're working on are RNA-based therapies that kind of get around the problems of AAV and CRISPR, while also reducing the cost. So the idea behind this research is not only make a long-lasting therapy, but one that anyone can afford. Similar to the RNA vaccines that we're used to now. So the issues with AAV that are known are the, one, the high cost, but two, the what's now being found out from luxturna with the RPE atrophy after treatment. Which is due to the virus particle and the inflammatory response. So we're trying to circumvent both, having a biological particle but also the inflammatory response that the cells can recognize and cause the atrophy. 

Genome editing, while it sounds great, from a perspective of efficiency is very low. And not only that, with 300 known genes to cause retinal dystrophies, there are thousands of mutations that would need to be corrected, and this is too inefficient. It would take too long to make it through the FDA process. So what we would like to do is both circumvent the AAV and the CRISPR with a therapy that can be easily developed, long-lasting, and be developed quickly enough so that we can treat everyone that may have a visual dystrophy due to genetic mutations.

Envision Summit 2025: Beyond the status quo in gene therapy

Alon Kahana, MD, PhD

, Alon Kahana, MD, PhD, discussed interleukin-6 (IL-6), a signaling molecule crucial in regulating the immune system and its role in autoimmune diseases, particularly thyroid eye disease (TED). IL-6 influences T cells, B cells, and inflammatory cells, driving immune processes that can be beneficial in infections but harmful in autoimmune conditions. TED often affects patients with autoimmune thyroid disorders, such as Graves’ disease or Hashimoto’s thyroiditis, and involves orbital inflammation.

Currently, TED is primarily treated with teprotumumab (Tepezza), targeting the IGF-1 receptor pathway, which reduces orbital congestion and proptosis. However, this therapy does not address the root autoimmune triggers, leading to frequent symptom relapses post-treatment. IL-6 inhibitors, such as tocilizumab (FDA-approved for rheumatologic conditions), target the IL-6 receptor. However, receptor blockade can trigger a feedback loop that increases receptor expression, limiting efficacy.

A promising alternative under clinical trial is pacibekitumab, an IL-6 ligand-blocking antibody. It binds to the ligand before receptor interaction, avoiding feedback loops and potentially offering greater efficacy. This mechanism suppresses IL-6-mediated immune activity, including T-cell regulation, cytokine release, and orbital fibroblast activation, which drives TED inflammation. Preliminary trials indicate good safety and tolerability for this approach.

Challenges in translating preclinical findings into clinical success include optimizing drug formulation, delivery, dosage, and ensuring efficacy without toxic off-target effects. TED is an orphan disease, complicating patient recruitment for trials. Trials must also assess long-term safety, efficacy, and diverse patient responses to meet FDA standards.

Looking ahead, personalized medicine could revolutionize TED treatment by identifying biomarkers that predict disease severity and therapeutic response. This approach, already transformative in cancer care, could tailor IL-6 inhibition and other treatments to individual immune triggers, offering more effective, targeted interventions while preventing blindness and disfigurement in TED patients.

Kahana is the owner of Kahana Oculoplastic & Orbital Surgery in Livonia and Ann Arbor, Michigan, and is a professor of oculoplastic surgery and vice chair for academic affairs in the Department of Ophthalmology at Oakland University William Beaumont School of Medicine in Royal Oak, Michigan.

For more information on Dr. Kahana and his work, visit 

https://url.us.m.mimecastprotect.com/s/cc2XCDkA2ASXDZBOTWfQIj_LZB?domain=drkahana.com/

Interleukin-6 (IL-6) plays a significant role in autoimmune diseases like thyroid eye disease (TED), often linked to thyroid disorders such as Graves’ disease. Current TED treatments, like teprotumumab, target symptoms but not the underlying autoimmune causes, leading to relapses. IL-6 inhibitors, such as tocilizumab, face challenges due to feedback loops. Pacibekitumab, an IL-6 ligand-blocking antibody, shows promise in clinical trials by avoiding these loops. Challenges include optimizing drug delivery and ensuring safety. Personalized medicine could enhance TED treatment by tailoring interventions to individual immune triggers.

In an interview with Ophthalmology Times, Alon Kahana, MD, PhD, discusses interleukin-6 and its role in autoimmune diseases, particularly thyroid eye disease, noting that a promising alternative under clinical trial is pacibekitumab, an IL-6 ligand-blocking antibody.

IL-6 and its role in thyroid eye disease

Arjan Hura, MD, highlights the clinical and surgical updates at CIME 2024

Countdown to CIME 2024: More CME, more innovation, more interaction

With an expanded program providing attendees with more CME credit and hands-on experience, the 18th Annual Controversies in Modern Eye Care (CIME) meeting will take place at the Hilton Los Angeles/Universal City in California on May 4, 2024.

Arjan Hura, MD, Robert Maloney, MD, and Neda Shamie, MD, from the Maloney-Shamie Vision Institute in Los Angeles are the program cochairs of the meeting. Hura recently spoke with 

® about the conference schedule, which will cover the latest innovations and discussions in cataract and refractive surgery, retina gene therapies, corneal endothelial diseases, and oculoplastics, providing attendees with more CME credits and interactive experiences with industry partners.

To learn more about or to register for the 18th Annual CIME meeting, 

- The following transcript has been lightly edited for clarity.

My name is Arjan Hura, MD. I’m a refractive, cataract, and anterior segment surgeon at the Maloney-Shamie Vision Institute in Los Angeles, California. We are so excited to welcome you back this year to the next iteration of our Controversies in Modern Eye Care symposium taking place on Saturday, May 4, 2024, in Los Angeles.

The history of the meeting has been such that this is a venue where we always discuss what’s new, what’s up and coming in modern eye care, but also, we don’t shy away from the controversies. We embrace different opinions in a healthy and respectful and positive manner.

There’s a lot of new and exciting technology coming on the horizon, not just on the cataract and refractive side of things but there’s a lot of interesting gene therapeutics taking place in retina. There’s some cell therapy being developed for corneal endothelial dystrophies. In the world of oculoplastics and thyroid eye disease, there’s a lot of exciting innovation taking place there as well.

For the first time ever, we’re having this event on a Saturday. We’re expanding the format. So it’s going to be a longer meeting, which means more CME than usual. The industry partners that are coming to this meeting are going to be bringing hands-on, live demo experiences.

Apart from just the benefits of networking, seeing your friends in person, I think there’s going to be a lot of exciting content [and] a lot of hands-on opportunities. We hope that this will be one of the most fulfilling and fun educational events of the year for you.

We can’t wait to see you Saturday, May 4. See you there!

Program cochair Arjan Hura, MD, previews this year’s extended schedule with discussions on retina gene therapies, corneal endothelial diseases, and oculoplastics, along with hands-on experiences.



Ophthalmology Times® talked with Theresa Heath, MD, MBA, about Non-viral gene therapy targeting ABCA4 retinopathies at this year's ARVO meeting.

I'm really pleased to be here today to give you an update of what we're doing at Intergalactic Therapeutics. We are transforming medicine in nonviral gene therapy and just released our 12-month persistent expression data [inaudible] for lead program called ABCA4-associated retinopathies, or IG-002. 

So, the meeting went well. The presentation was really great, we were able to show persistent expression, durability, and more importantly, safety. So, we're really excited to enter IND next year and to start clinical trials next year. I think it's fantastic. With this nonviral gene therapy approach, it can really overcome safety, but more importantly, effectiveness and efficiency for delivering this large payload capacity of the gene to all patients. 

What we're also doing is delivering this with a CMC manufacturing process, that allows patient accessibility due to the scalability and the low costs of goods.

ARVO LIVE: Non-viral gene therapy targeting ABCA4 retinopathies

Ophthalmology Times® talked with Bruce Ksander, PhD, about epigenetic reprogramming to reverse aging and restore function to retinal ganglion cells at this year's ARVO meeting.

Hello, I'm Bruce Ksander, an associate professor at Harvard Medical School, and I'm here to present our work on epigenetic reprogramming to reverse aging and restore function to retinal ganglion cells. 

So, in collaboration with my colleagues at Life Biosciences and the Department of Genetics at Harvard, and I'm at Mass. Eye and Ear here, we've worked together to develop a new type of gene therapy that uses 3 of the 4 Yamanaka genes that can reprogram cells, and when we use 3 of these reprogramming genes, it reverses the epigenetic age of retinal ganglion cells.

So we've applied this in several mouse models of physiological aging glaucoma and optic nerve crush, and what we just presented at ARVO is now the most recent study on non-human primates where we've induced, with a laser, a form of NAION, and so, in these primates, we induced vision loss and damage to RGCs by the laser treatment, and then applied an intravitreal injection of an inducible AAV OSK gene therapy. 

This then restored the visual function in the primates as assessed by pattern ERGs. And so, we're very optimistic about this platform moving forward as a way to rejuvenate aged or injured cells, and we believe this will go on and be applicable to other cells in the retina besides RGCs.

Ophthalmology Times® talked with Bruce Ksander, PhD, about epigenetic reprogramming to reverse aging and restore function to retinal ganglion cells at this year's ARVO meeting.



ARVO LIVE: Epigenetic reprogramming to reverse aging and restore function to retinal ganglion cells

Ophthalmology Times® talked with Jay Barth, MD, about the work at Ascidian Therapeutics and their research into developing a new way to administer gene therapy at this year's ARVO meeting.

Hi, I'm Jay Barth. I'm the Chief Medical Officer at Ascidian Therapeutics, and I'll talk to you about the science that underlies the work at Ascidian. We are developing a new way of administering gene therapy, and, through a mechanism known as exon editing of RNA, we're able to restore protein to genes that are deficient or non-functional, due to mutations, in which cases the gene therapy and gene editing technologies that are currently available are not applicable. In particular, genes that are of large size and beyond the carrying capacity of current AAV.

And that's a perfect example of which is the lead candidate in our pipeline, which is for Stargardt's disease and treatment of other ABCA4 related retinopathies. These retinopathies related to ABCA4 are the most common genetic form of macular degeneration, usually affecting people in their second and third decade of life, with progression over the subsequent years to loss of vision. We believe that with the technology that we have, we would [be] able to replace the mutated exons in the RNA of these patients with wild-type exons. In other words, restore normal mRNA in order for the patient to produce normal ABCA4 protein, and this is using the cell's own machinery. 

So there's no foreign enzymes involved. But we feel that the advantages of this technology are that it edits RNA and not DNA, so it does not have any long lasting impact on the patient's DNA, that it can address diseases where the gene is too large for standard gene therapy, that with replacing exons, we can treat multiple different mutations, meaning one drug can treat many different patients, and that this technology really regulates the amount of protein that's produced, so that it avoids any issues of under expression or over expression of the protein. So for all these reasons, we're very excited about this program.

The initial program is [inaudible] editor that replaces exons, 1 to 22 of the ABCA4 gene, and that can address the majority of patients mutations in ABCA4 retinopathy. We are now in presenting at this meeting both in vitro and in vivo data. For this program, the in vitro data includes a cell disease model of ABCA4 knockout and then administration of the treatment. We're also presenting data on retinal explants, showing expression, RNA replacement and expression with administration of the exon editor, and importantly, non-human primate data that shows a fairly high level of RNA replacement in monkeys that are treated with the ABCA4 exon editor, and showing resistance of the RNA replacement at this high level out to six months. So with all of that in vitro and in vivo data, we are now in the middle of conducting our studies towards an IND and hope to move into the clinic as soon as possible in order to begin our Phase 1/2 clinical trial in Stargardt disease and other ABC4 related retinopathies.

ARVO LIVE: Ascidian Therapeutics' research into gene therapy

This transcript has been lightly edited for clarity.

Hi, I'm Jeff Nau. I'm the the president and CEO of Oyster Point Pharmaceuticals. We're located in Princeton, New Jersey. And I'm here at the Eyecelerator 2022 meeting, and wanted to give an update as we're one year since the launch of Tyrvaya: Last October, we received our FDA approval, and in November, we launched the product into the US marketplace. We've had a great year with a lot of great uptake into the marketplace. We're really excited about the expanded patient access we've been able to offer and the adoption in the marketplace with all the dry eye practitioners.

Jeff Nau, PhD, MMS, President and CEO of Oyster Point Pharmaceuticals, provides an appraisal of the company's pipeline as well as updates on recent innovations to hit the market.

Gene Therapy

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