Emerging treatments

There are also a number of emerging treatments currently in the pipeline. These include

There is no guarantee that they will become available however, as stringent clinical trials must be performed first to show safety and efficacy, and they are all in various stages of development.

Phase 3 interventional clinical trials can serve as beacons of hope for the discovery of potential new treatments. This phase is typically the last stage of testing to provide evidence of effectiveness, which is necessary for seeking regulatory approval from bodies such as the Therapeutic Goods Administration (TGA) in Australia, the Food and Drug Administration (FDA) in the USA, and the European Medicines Agency (EMA) in Europe. However, exceptions exist. Pathways like accelerated approval or conditional approval can allow for earlier submissions for treatments addressing serious conditions with unmet medical needs.

Bota-vec for X-linked Retinitis Pigmentosa (XLRP)

In a collaborative investigation with MeiraGTx Holdings plc, Janssen Pharmaceuticals has been conducting a Phase 3 trial called LUMEOS for Botaretigene Sparoparvovec (Bota-vec), formerly AAV-RPGR, for the treatment of X-linked retinitis rigmentosa (XLRP) associated with the RPGR gene. X-linked conditions are caused by gene mutations on the X-chromosome and are typically more severe in males.

Bota-vec is administered via a single injection into the sub-retinal space, located between the light-sensitive retina lining the back of the eye and the underlying posterior blood supply of the eye. This one-time gene therapy is designed to deliver functional copies of the RPGR gene aiming to preserve and prevent retinal cell loss in people living with XLRP. Preliminary results from earlier Phase 1/2 trials demonstrated significant improvements in both retinal sensitivity and vision-guided mobility, highlighting the drug’s potential benefits. The Phase 3 trial is expected to have been recently completed, with results anticipated to be reported within the next 6-9 months.

MCO-010 for Retinitis pigmentosa and Stargardt disease

MCO-010 (sonpiretigene isteparvovec), developed by Nanoscope Therapeutics, is a gene therapy designed to restore light sensitivity in patients with inherited retinal diseases, regardless of specific mutations. Delivered via a single eye injection, it enables bipolar cells to produce the MCO protein, improving light sensitivity in cases of severe vision loss. This technique is known as optogenetics.

In a previous article, “Optogenetics win for retinitis pigmentosa after changing primary endpoint”, we highlighted the Phase 2 clinical trial success of MCO-010 for retinitis pigmentosa. In October 2024, Nanoscope Therapeutics announced that after a productive meeting with the FDA, it will initiate a Biologics License Application (BLA) in Q1 2025, with reference to its fast track designation received from the FDA.

Also resulting from this trial success, Nanoscope Therapeutics is set to launch a Phase 3 clinical trial for MCO-010 targeting individuals with advanced Stargardt disease, with site selection in Q4 2024 and patient dosing in Q1 2025.

 

We eagerly await further announcements of these studies and potential new therapies and are hopeful for the delivery of new treatments for IRDs.