SpliceBio Receives FDA Clearance to Launch Clinical Trial for Stargardt Disease Protein Splicing Therapy

SpliceBio, a genetic medicines company developing protein splicing therapies for inherited retinal diseases and other conditions, has received authorization from the US Food & Drug Administration (FDA) to launch a Phase 1/2 clinical trial for SB-007, its emerging protein splicing therapy for Stargardt disease caused by ABCA4 mutations. Known as ASTRA, the trial is scheduled to begin in the first half of 2025. Details of the trial are forthcoming. ASTRA is the first FDA-authorized clinical trial for a protein splicing therapy.

SpliceBio is currently conducting a natural history study of approximately 75 people with Stargardt disease at multiple clinical sites throughout the US. Known as POLARIS, the natural history study will help the company refine patient eligibility requirements for ASTRA. The study will also enable researchers to better understand disease progression and identify the best outcome measures to determine how well SB-007 is working in the trial.

Stargardt disease, and most other inherited retinal diseases, is caused by mutations in a single gene. Genes are like recipes that cells read to make proteins which are critical to the cells’ health and function. Like mistakes or misspellings in a recipe, mutations cause the cells to make insufficient or incorrect proteins, leading to disease. While many emerging retinal disease gene therapies involve delivery of an entire new gene to compensate for the mutated gene, the ABCA4 gene is too large to deliver with commonly used viral delivery systems.

Protein splicing with SB-007 involves delivery of the ABCA4 gene in two halves, using dual viral vectors, to cells in the retina. Once in the cells, each gene half makes half of a protein. SB-007 uses a special biochemical process called protein splicing to bond the two halves to make a full-length, functional protein.

SB-007 is designed to be a one-time treatment injected underneath the retina.