Feb 10, 2025

Rare Disease Day: An Update on Inherited Retinal Disease Research

February 28 is Rare Disease Day. In recognition of the day, Fighting Blindness Canada is raising awareness to drive change for those with rare diseases, including an inherited retinal disease (IRD). New treatments are desperately needed for the 22,000 Canadians who have an IRD and we are excited to share research updates that are bringing us closer to this goal.

Preclinical Research

A new gene editing approach for Stargardts disease was published in the high impact journal Nature Medicine. Using a base editing approach, researchers corrected the most common ABCA4 mutation (c.5882G>A) in mice and non-human primates. Unlike traditional gene therapy where a full functional gene is put back into cells, base editing precisely fixes small errors. This promising technique, patented by Beam Therapeutics, may lead to human trials and help treat other IRDs.

Clinical Trial Updates

Several biotechnology companies announced FDA (Food and Drug Administration in the US) milestones which may speed drug development and access.

Rare pediatric disease designation aims to incentivize drug development for rare childhood diseases.

• eyeDNA Therapeutics: HORA-PDE6b gene therapy for individuals with retinitis pigmentosa caused by mutations in the PDE6b gene. There is an ongoing Phase 1/2 trial for this therapy.
• Vigeneron: VG901 gene therapy for retinitis pigmentosa caused by mutations in the CNGA1 gene. This therapy is being tested in a Phase 1b trial.

Fast track designation allowing faster review of drugs for serious conditions with unmet need

• Nacuity Pharmaceuticals: NPI-001, an oral therapy targeting oxidative stress in retinitis pigmentosa (RP) associated with Usher syndrome is being tested in a Phase 2 trial. In the future it may be tested in other forms of RP or other types of IRDs.

New Clinical Trial Approval

• SpliceBio: Received FDA approval to begin a Phase 1/2 clinical trial in 2025 for SB-007 a gene therapy for Stargardt disease caused by mutations in ABCA4.