遺伝性眼疾患向け遺伝子治療が臨床試験段階へ前進

The FDA has granted Sanaregen Vision Therapeutics clearance to commence a Phase I/II clinical trial for its investigational cell therapy for Familial Drusen, an inherited form of macular degeneration. The trial will assess safety and effectiveness of SVT-001 to improve retinal function and restore vision in individuals with Familial Drusen.

Separately, a patient in Oxford has been treated for Stargardt disease as part of a new clinical trial by the genetic medicines company SpliceBio. The trial is testing a new gene therapy for Stargardt disease, a currently incurable inherited eye condition which leads to progressive vision loss and eventually blindness in children and adults. The condition affects up to 1 in 8,000 people worldwide. The patient in Oxford represents the start of the trial's second phase.

The disease is caused by a mutation of the ABCA4 gene. SpliceBio's therapy uses two harmless viruses to deliver a healthy version of the gene into the retina. Until this trial, the large size of the ABCA4 gene had made it impossible to replace using standard gene therapy methods. SpliceBio states that their gene therapy has the "potential to treat all patients across all ABCA4 mutations".

The use of two viral vectors that recombine once inside retinal cells is a unique approach to restoring the large gene needed in Stargardt disease, and dual vectors might have implications for treating other retinal degenerations. This unique gene therapy modality has the potential to slow or even halt progression of this debilitating disease, which is the most common cause of inherited blindness in children.

The second phase of the clinical trial aims to treat 57 patients aged 12 to 65, and is predicted to conclude in 2028.

SpliceBio secured $135 million in financing in June 2025, co-led by EQT Life Sciences and Sanofi Ventures with participation from Roche Venture Fund, as well as previous investors.