SpliceBio Receives FDA IND Approval for SB-007 Phase 1/2 Stargardt Study

In a landmark development, SpliceBio, a genetic medicines firm based in Barcelona, announced that the U.S. Food and Drug Administration (FDA) has approved its investigational new drug application for SB-007. This drug is the first clinical-stage therapy that targets the underlying genetic cause of Stargardt disease, a progressive eye disorder. SB-007 has the potential to treat all patients with mutations in the ABCA4 gene, regardless of the specific variant.

SB-007 is unique as it marks the first-ever FDA clearance for a gene therapy using Protein Splicing, a novel therapeutic modality. The therapy employs an adeno-associated viral (AAV) vector to restore the expression of the complete ABCA4 protein, addressing a significant challenge in gene therapy due to the large size of the ABCA4 gene. This development opens new avenues for treating diseases caused by mutations in large genes.

Dr. Miquel Vila-Perelló, co-founder and CEO of SpliceBio, expressed enthusiasm over this milestone, highlighting its importance for Stargardt patients. He emphasized the therapy's potential to transform the treatment landscape for this disease and noted that the company is committed to advancing SB-007 through clinical development. The FDA's Orphan Drug Designation granted in 2024 underscores the therapy’s potential impact.

Stargardt disease presents a significant therapeutic challenge due to its genetic basis in the large ABCA4 gene. Currently, there are no approved treatments, leaving patients to cope with progressive central vision loss. Professor Paul Yang from Oregon Health & Science University highlighted the therapy's innovative approach, which promises to efficiently replace the full-size, functional ABCA4 protein. This advancement could be transformative for patients affected by the condition.

SpliceBio plans to launch the Phase 1/2 ASTRA study by mid-2025 to assess the safety and efficacy of a single subretinal dose of SB-007 in Stargardt patients. This follows the commencement of the POLARIS trial in March 2024, a natural history study designed to expedite patient enrollment by refining disease progression metrics and eligibility criteria. This groundwork aims to enhance diagnosis accuracy, improve monitoring, and accelerate access to innovative treatments.

In addition to its flagship SB-007 program, SpliceBio is working on other gene therapy initiatives targeting diseases related to large gene mutations, particularly in the fields of ophthalmology and neurology. The company's cutting-edge platform is built on decades of research in Protein Splicing and protein engineering, originating from the Muir Lab at Princeton University.

Stargardt disease, the most prevalent form of inherited juvenile macular degeneration, affects young and adult populations. It causes macular damage, leading to central vision loss. Despite its prevalence, effective treatments have remained elusive due to the challenging nature of the ABCA4 gene.

SB-007 has shown promising results in preclinical studies, demonstrating significant pharmacological activity in animal models and sustained expression in non-human primates. The therapy has also received Orphan Drug Designation from both the FDA and the European Commission, indicating its potential as a breakthrough treatment.

SpliceBio will participate in the upcoming J.P. Morgan Healthcare Conference in January 2025 to further discuss its innovative approaches and future plans in the genetic medicine landscape. This conference will provide a platform to highlight SB-007’s potential impact on patients and the broader medical community.