Zolgensma’s Success in SMA Treatment Advocates for AAV-based Gene Therapy and Promises a Bright Future for Genetic Disorders

At the 2023 Muscular Dystrophy Association Clinical and Scientific Conference, Novartis presented new data highlighting the continued efficacy and durability of its gene therapy treatment, Zolgensma, in treating spinal muscular atrophy (SMA). Zolgensma has been shown to provide consistent and substantial benefits to patients over time, regardless of their symptomatic status at the time of treatment. Its success advocates for adeno-associated virus (AAV) based gene therapy, and the therapy has been approved in more than 47 countries, treating over 3,000 patients globally. Novartis Gene Therapies has exclusive worldwide licenses with various organizations for AAV-based gene therapies for SMA, demonstrating the potential of AAV-based gene therapy to treat a range of genetic disorders.

Two long-term follow-up studies, LT-001 and LT-002, evaluated the safety and efficacy of Zolgensma, with LT-001 following up on ten patients who received the therapeutic dose of Zolgensma for up to 15 years, and LT-002 following up on 81 patients previously treated with Zolgensma for up to 15 years. Both studies showed that all patients maintained previously achieved motor milestones, and many achieved new motor milestones during the follow-up period, demonstrating the long-term benefits of Zolgensma treatment. No serious treatment-emergent adverse events related to the study treatment occurred, and no new safety signals were identified in either study.

At the MDA conference, the RESTORE registry presented findings that demonstrated the efficacy and safety of Zolgensma in treating SMA patients with four or more copies of the SMN2 gene. Patients treated with Zolgensma alone showed improvements in survival, motor function, and achieved new milestones, consistent with previously reported safety findings. The ongoing registry provides real-world data to optimize outcomes for all SMA patients.