First patient dosed in Phase 1/2 ASTRA study for Stargardt disease therapy SB-007 (SpliceBio)

SB-007 has been granted orphan drug designation in Europe and the US. Image credit: ©rabbitti – stock.adobe.com

SpliceBio, a genetic medicines company based in Barcelona, Spain, announced it has dosed the first patient in its trial of SB-007, a gene therapy in development for the treatment of Stargardt disease. The Phase 1/2 ASTRA study will assess SB-007, a dual adeno-associated viral (AAV) vector.

Stargardt disease is an inherited disorder caused by mutations in the ABCA4 gene, a progressive retinal dystrophy which currently has no approved treatments available. As the most common form of inherited juvenile macular degeneration, Stargardt disease affects approximately 1 in 8,000 to 10,000 individuals.

In a press release,¹ Paul Yang, MD, PhD, commented on the study. He is 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. “Stargardt disease is a devastating inherited retinal disorder with no approved treatments available,” Prof Yang said. “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.”

SB-007, an investigational protein splicing dual AAV gene therapy, is designed to restore expression of the native full-length ABCA4 protein in the retina. In both Europe and the US, SB-007 has been granted orphan drug designation. SpliceBio also continues to enroll patients in the POLARIS study, a natural history study of Stargardt disease.

Miquel Vila-Perelló, PhD, chief executive officer and co-founder of SpliceBio, explained why the first dosing in the ASTRA study is such a significant milestone. “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,” he explained. SpliceBio leadership indicated that the company will share data at scientific conferences as the ASTRA and POLARIS studies progress.

Reference

1. SpliceBio Announces First Patient Dosed in Phase 1/2 ASTRA Study of SB-007, a Dual-AAV Gene Therapy for Stargardt Disease. SpliceBio. News release. Published March 13, 2025. Accessed March 13, 2025. https://splice.bio/splicebio-announces-first-patient-dosed-of-sb-007/