Sep 8, 2025

2025 Research Round-Up: Advances in Inherited Retinal Disease

The past year has seen ongoing progress in the field of inherited retinal disease (IRD) research. From discoveries reshaping our understanding of retinal biology to the first photoreceptor replacement cell therapy entering clinical trials, 2025 has brought steady progress and exciting breakthroughs.

Below is a snapshot of some of the recent advances. You can also find a more comprehensive listing of active clinical trials for IRDs on our Clinical Trial Page.

Scientific Discoveries Reshaping Understanding

Much discovery and translational research happens in the lab. While it may seem far from clinical trials, it is crucial for understanding of IRDs and driving new technologies.

• Researchers have developed new virus-like particles capable of editing disease-causing genes. Tested in two IRD animal models, this new delivery system may allow higher efficiency for gene therapy treatment.
• A study in an animal model of retinitis pigmentosa (RP) caused by mutations in RHO demonstrated that transpalpebral electrical stimulation (TES) significantly improved visual function and photoreceptor integrity. TES is a non-invasive technique where mild electrical currents are delivered through electrodes placed on the eyelid with the aim to stimulate retinal cells and preserve vision.
• Scientists identified UBAP1L as a gene linked to some macular IRDs including cone or cone-rod dystrophy. The macula is the part of the eye responsible for central and detail vision. UBAP1L is now added the list of almost 300 genes responsible for an IRD and opens the door to improved diagnosis and perhaps even targeted treatment in the future.
• Sometimes innovation means looking at old medicines in new ways. Researchers found that a common blood pressure drug, reserpine, may slow vision loss in certain IRDs. In these studies, it was tested in LCA10, caused by mutations in CEP290 and autosomal dominant RP caused by mutations in RHO. Interestingly the effect of the drug was greatest in female animals.

Gene Agnostic Treatments in Clinical Trial

A gene-agnostic therapy is a treatment that should work for most people with an IRD, independent of what their gene mutation is. Some gene agnostic therapies are first tested in patients with a specific IRD, but the hope is that if approved, they could be useful for many different IRDs.

• BlueRock Therapeutics announced dosing of the first patient in its Phase 1/2 trial, testing OpCT-001. This is the first clinical trial of an induced pluripotent stem cell therapy, a major milestone. This restorative therapy aims to replace lost photoreceptor cells in advanced primary photoreceptor diseases including RP, and cone-rod dystrophy.
• Nanoscope Therapeutics has reported that its gene agnostic optogenetic therapy, MCO 010, significantly improved vision in people with Stargardt disease. The therapy was also safe over nearly a year of follow up. Encouraged by these Phase 2 findings, the company plans to launch a larger Phase 3 trial before the end of 2025. This therapy is also being tested for RP.
• jCyte Inc. treated its first patients in a Phase 2 trial testing the safety of jCell, which aims to improve vision in RP. jCell injects special cells into the eye which release growth factors that may help photoreceptors survive longer.

Expanding Frontiers in Gene Therapy Clinical Trials

Coming Soon…

A number of therapies are looking to launch clinical trials in the coming year:

• AAVantgarde Bio received approval from the US Food and Drug Agency (FDA) to launch a Phase ½ clinical trial (CELESTE) testing the safety of a new gene therapy (AAVB-039) in patients with Stargardt disease caused by mutations in ABCA4.
• Opus Genetics and Global RDH12 Alliance announced a partnership to continue development of OPGx-RDH12, a gene therapy for LCA caused by mutations in RDH12. The gene therapy has promising pre-clinical data and Opus will be applying to the FDA for permission to launch the first in human clinical trial.
• Opus Genetics also announced approval from the FDA to launch a Phase ½ clinical trial testing a gene therapy for BEST disease (also called vitelliform macular dystrophy) caused by mutations in BEST1. The trial will test safety and tolerability of the gene therapy OPGx-BEST1.

Newly Launched Trials

We are happy to share news about clinical trials that have treated their first patient which is a key milestone in the clinical trial process:

• Aavantgarde Bio’s Phase ½ clinical trial for AAVB-081, a dual-vector AAV therapy, for retinitis pigmentosa (RP) caused by USH1B mutations.
• Ocugen’s Phase 2/3 clinical trial for OCU410ST for Stargardt disease

Updates on Ongoing Trials

• Beacon Therapeutics completed enrollment in its Phase 2/3 VISTA trial for X-linked retinitis pigmentosa (XLRP), an important milestone for one of the largest ongoing gene therapy studies in IRDs.
• Atsena Therapeutics received agreement from the FDA to expand their Phase1/2 clinical trial testing ATSN-201 for X-linked retinoschisis (XLRS) into a Phase 1/2/3 trial. This continuous approach could save up to 18 months, versus having to conduct a separate Phase 3 study.
• Vigeneron received approval from the FDA to test higher doses of their gene therapy (VG901) for RP caused by mutations in CNGA1.

Clinical Trial Results

• Promising results were published from a Phase ½ clinical trial testing a new gene therapy for LCA1, which leads to early childhood blindness, caused by mutations in GUCY2D. In 15 patients, the gene therapy was generally safe. Those given the highest dose showed marked improvement in low-light vision. These promising results will hopefully encourage launch of a larger Phase 2/3 trial in the coming years.
• Opus Genetics reported promising 12-month data for Phase 1/2 LCA5 gene therapy trial for Leber congenital amaurosis (LCA). Based on this data Opus will be discussing plans to launch a Phase 3 study in the coming years.

Looking Ahead

With trials advancing across gene therapies, gene editing, stem cells and new drugs the IRD research landscape has never been more dynamic. We continue to look ahead to the time when these discoveries move from the potential of a clinical trial to the reality of an approved treatment.