Research news round-up – Spring 2024

Study to access the safety and efficacy of OCU410ST for Stargardt disease

Biotechnology company Ocugen is conducting a phase 1/2 clinical trial to test the effectiveness of a gene therapy called OCU410ST for the treatment of Stargardt disease. US-based Ocugen will enrol 42 individuals living with Stargardt disease, aged between six and 65. The trial will take place in the United States across five study centres. It consists of two phases. In phase 1, the dosage of the gene therapy (OCU410ST) will be tested on 18 people. Then in phase 2, the remaining 24 people will be split into one of two groups, one of which will be a control group. The estimated completion date for this trial is October 2025.

Curing genetic blindness with space-enhanced artificial retinas

A start-up company, LambdaVision are working with Space Tango to develop a protein-based artificial retina. The artificial retina will utilise a light activated protein called bacteriorhodopsin. These artificial retinas will be manufactured in space where the reduced gravity will help the production quality.

The aim is for the artificial retinas to restore functional sight to individuals living with retinitis pigmentosa (RP).

SparingVision reaches final dose escalation step in trial of SPVN06 for retinitis pigmentosa

SparingVision is conducting a Phase 1/2 clinical trial for SPVN06, a therapy for the treatment of retinitis pigmentosa (RP) which aims to preserve central vision. In January 2024, SparingVision announced that the clinical trial had safely reached the final step of the dose escalation phase, which determines the best dose of a treatment.

SPVN06 is aimed at slowing disease progression in people with rod-cone dystrophy, regardless of their genetic diagnosis. The treatment provides copies of a gene that aids survival of the cone photoreceptors responsible for central vision. SparingVision is initially focusing on mid-stage RP.

President and CEO of SparingVision, Stéphane Boissel said the company was “encouraged by the strong safety and tolerability profile of SPVN06 demonstrated so far.”

Ascidian Therapeutics moves forward with RNA editing for Stargardt disease

Ascidian Therapeutics is to go ahead with in-human trials of their new treatment of Stargardt disease. The treatment, called ACDN-01, will begin phase 1/2 safety and efficacy testing in the first half of 2024.

ACDN-01 uses editing techniques which aim to compensate for harmful mutations by changing the sequence of RNA, a molecule that copies and transfers genetic code from DNA to a cell’s protein building machinery. This will allow normal proteins to be produced to replace the defective ones. Unlike edits to DNA, any changes made to RNA are transient, which potentially gives RNA editing a safety advantage over DNA editing approaches like CRISPR.

The condition will particularly benefit from an editing approach because it’s caused by a very large gene which is more difficult to treat with traditional gene replacement therapies.

Alkeus Pharmaceutical announces positive interim data showing gildeuretinol halted Stargardt disease progression

Alkeus Pharmaceuticals announced positive interim data from their ongoing TEASE-3 clinical trial evaluating gildeuretinol (ALK-001) as a treatment in early stage Stargardt disease. The findings showed that ALK-001 stopped the progression of Stargardt disease for up to six years.

Stargardt disease occurs as a result of the ABCA4 protein being defective, leading to accumulation of toxic by-products, which irreversibly damage the retina.

In pre-clinical studies, gildeuretinol prevented retinal degeneration and blindness in animals with Stargardt disease.

TEASE trials consist of four independent studies and TEASE-3 is the first clinical trial in early-stage Stargardt disease. The first three teenage patients who enrolled in the trial and were treated with oral gildeuretinol acetate, remained unaffected and free of disease progression for their treatment duration.

jCyte outlines plans to start pivotal trial of jCell for retinitis pigmentosa in second half of 2024

jCyte has announced plans to begin their much-anticipated phase 3 trial for jCell in the second half of this year. jCell is a stem cell-like treatment which is injected into the jelly (vitreous) of the eyeball, with a local anaesthetic. Unlike most gene therapies, jCell isn’t designed to treat a specific genetic fault, which means it could be beneficial for a large proportion of people living with RP, especially in cases where genetic testing hasn’t produced a definitive result. In phase 2 trials, jCell produced significant improvements in people with RP who still had a reasonable level of vision, and is thought to work by nourishing and supporting the survival of remaining photoreceptors. jCyte is committed to starting the phase 3 trial in the second half of 2024 but has not announced where the trial sites will be – it’s unknown if any will be in the UK. Retina UK will provide updates as soon as we have more information.