NEW YORK – The US Food and Drug Administration has granted SpliceBio permission to begin a Phase I/II trial of its lead candidate, a gene therapy for Stargardt disease, the Barcelona-based company said Thursday.
SpliceBio plans to begin enrolling patients into the Phase I/II ASTRA trial in the first half of 2025. In the trial, investigators will evaluate the safety and efficacy of a single dose of the gene therapy administered subretinally in patients with Stargardt disease, an inherited form of juvenile macular degeneration that's typically caused by mutations in the ABCA4 gene.
SB-007 is a protein splicing gene therapy that uses an adeno-associated virus to deliver a full-length ABCA4 gene and aims to restore expression of the ABCA4 protein in the retina. Since the ABCA4 gene is too large for standard gene therapy, SpliceBio uses a dual approach in which it splits the gene into two components.
The gene therapy has the potential to treat patients across all ABCA4 mutations, the company said.
SB-007 represents the first gene therapy that uses protein splicing to have its investigational new drug (IND) application cleared by the FDA, according to SpliceBio. The company's protein splicing platform for gene therapy development is based on an engineered form of inteins, a family of proteins that carries out protein splicing.
"As the first-ever IND for a protein splicing gene therapy, it is a huge step forward to demonstrate the potential of this new therapeutic modality to address diseases caused by mutations in large genes such as ABCA4," SpliceBio CEO and Cofounder Miquel Vila-Perelló said in a statement.
The ASTRA trial will build off POLARIS, a natural history study of Stargardt disease that SpliceBio launched in March 2024 to evaluate disease progression, refine endpoints, and accelerate enrollment into the upcoming Phase I/II trial.