SpliceBio, a clinical-stage genetic medicines company, based in Barcelona Science Park, pioneering Protein Splicing to address diseases caused by mutations in large genes, has announced that it has dosed the first patient in the Phase 1/2 ASTRA study of SB-007, a dual adeno-associated viral (AAV) vector, for the treatment of Stargardt disease, an inherited retinal disorder caused by mutations in the ABCA4 gene. It is the most common form of juvenile macular degeneration, leading to progressive central vision loss and ultimately resulting in blindness, with no approved treatments available.

“Stargardt disease has remained elusive to gene therapies due to the large size of the ABCA4 gene. SB-007 is the first gene therapy in clinical development designed to restore expression of the full-length ABCA4 protein across all Stargardt disease patients, regardless of their mutations,” said Miquel Vila-Perelló, Ph.D., Chief Executive Officer and Co-Founder of SpliceBio. “Treating the first patient in the ASTRA study with SB-007 is an important milestone for SpliceBio and the Stargardt disease patient community, who are in desperate need for a therapy. I am immensely proud of our outstanding team at SpliceBio whose depth of experience in leading numerous ophthalmology gene therapy trials in the last 15 years is unparalleled.”

Paul Yang, M.D., Ph.D., Chief of the Paul H. Casey Ophthalmic Genetics Division at Oregon Health & Science University Casey Eye Institute and Principal Investigator of Phase 1/2 ASTRA Study, commented: “Stargardt disease is a devastating inherited retinal disorder with no approved treatments available. The initiation of this study with the dual AAV vector gene therapy, SB-007, represents a critical advancement in finding a potential treatment option for patients with this disease. It is a privilege to be able to collaborate with SpliceBio on this groundbreaking clinical study, and I look forward to advancing research that could bring hope to patients affected by Stargardt disease.”

Aniz Girach, MD., Chief Medical Officer of SpliceBio, remarked: “We are excited to have treated the first patient in the US with our lead gene therapy. A single dose of SB-007 has the potential to address the root cause of Stargardt disease across all ABCA4 mutations. The Phase 1/2 ASTRA study will assess the safety and efficacy of SB-007 in patients with Stargardt disease. We look forward to continuing enrolment in our Phase 1/2 ASTRA study, alongside our foundational POLARIS trial, with the ultimate purpose of providing an effective and safe therapy for patients. As the study progresses, we aim to present data at upcoming scientific conferences.”

Alongside the ASTRA study, SpliceBio continues to actively enrol patients through its POLARIS trial, a natural history study monitoring disease progression and endpoints in Stargardt disease patients.

» Link to the news: SpliceBio website [+]