Tag: LCA10

Hope in Focus Attends Foundation Fighting Blindness Retinal Therapeutics Innovation Summit and Association for Research in Vision and Ophthalmology Annual Meeting

Hope in Focus Director of Outreach and Development Courtney Coates attended the Retinal Therapeutics Innovation Summit on May 2, 2025, hosted by the Foundation Fighting Blindness. This annual summit showcases over 25 presentations on advancing therapies, lessons learned, and progress on natural history studies and clinical trial endpoints.

Eric Hartman, Choroideremia Research Foundation with Courtney Coates

Highlights for the LCA community included:
Twelve-month clinical trial data for LCA5 showing a clear safety profile, clinically meaningful improvement in vision, and durability.
Lessons learned from the Editas gene editing trial for CEP290
The Road Ahead for SepulBio’s Antisense Oligonucleotide Therapy for LCA10 CEP290

Additionally, several presentations provided updates on programs for IRDs in various treatment modalities. Clinical trial endpoints continue to be an important topic of discussion as the field works to develop outcomes that are easy to measure, reflect a clinically meaningful improvement in vision, and can be validated for regulators.

ARVO 2025 conference signage displayed at the annual meeting

ARVO 2025

The summit was followed by the ARVO Annual Meeting, an essential resource for research updates, early pre-clinical research posters, and networking with the entire ecosystem of ophthalmic drug development. We continue to monitor early research for ultra-rare gene mutations, consistently engage with industry to incorporate the patient voice into clinical trials, and promote policy positions that will benefit the rare disease and LCA community.

For additional questions, please feel free to reach out to Courtney at [email protected].

Théa Forms Sepul Bio to Advance RNA Therapies for LCA10 and USH2A into Clinical Trials

In December 2023, ProQR sold its sepofarsen (LCA10) and ultevursen (USH2A) programs to Théa, a large European biotechnology company focused on ophthalmology. Théa, through its new dedicated business unit, Sepul Bio, will continue developing sepofarsen and ultevursen. I asked representatives at Sepul Bio a few questions about their emerging therapies, plans, and efforts. Here are their answers.

What are sepofarsen and ultevursen? Who developed these therapies, and how did they perform in clinical trials?

Sepofarsen is an experimental mRNA therapy designed to improve visual function for patients with Leber congenital amaurosis 10 (LCA10). Sepofarsen targets a specific genetic mutation (c.2991+1655A>G) in the CEP290 gene. This mutation stops the cell from producing an essential protein needed for the cells in the retina to function. By addressing this mutation with a piece of genetic material called an antisense oligonucleotide (AON), sepofarsen aims to restore cell function in the retina. The AON is delivered by an intravitreal injection. Sepofarsen is entering Phase 3 clinical development.

Ultevursen is an experimental mRNA therapy designed to stabilize visual function for patients with Usher syndrome type 2A or non-syndromic retinitis pigmentosa caused by mutations in exon 13 of the USH2A gene. These mutations stop the cell from producing usherin, an essential protein needed for the cells in the retina to function. By addressing this mutation with an AON, ultevursen aims to restore cell function in the retina. The AON is delivered by an intravitreal injection. Ultevursen is entering Phase 2 clinical development.

Both sepofarsen and ultevursen were first clinically developed at the biotechnology company ProQR Therapeutics, based in the Netherlands. Both emerging therapies improved vision in some patients participating in ProQR’s previous clinical trials.

What is Sepul Bio? What is its mission?

Sepul Bio is a dedicated business unit of Théa. The team is at the forefront of advancing transformative RNA therapies for inherited retinal diseases, particularly emphasizing the further development of sepofarsen and ultevursen.

Sepul Bio’s projects are driven by the vision of a future where patients with inherited eye diseases have treatment options for their eye condition. Through ongoing research and rigorous development, Sepul Bio hopes to bring new therapies to patients. Learn more at www.sepulbio.com.

As part of the divestment from ProQR, the dedicated team at Sepul Bio includes former members of the previous clinical development teams. This structure maintains consistency and brings previous experience with the programs to the new clinical development steps. The new business unit underlines Théa’s firm commitment to advancing therapeutic products for eye disorders, particularly where medical needs are unmet.

What are the lessons learned from the ProQR trials? What will Sepul Bio do differently to improve the two therapies’ chances of success?

The Sepul Bio team previously worked on the sepofarsen and ultevursen programs at ProQR. This experience has enabled the team to learn from previous regulatory and clinical interactions in formulating new plans for the programs.

All the previous learnings from the years of clinical development have been incorporated into the new designs, with further validation from key physicians and inherited retinal disease specialists. A key area of focus has been new tests and novel study designs that are more suited for developing therapies for rare retinal diseases.