Early intervention is critical in these cases and has been validated in clinical studies and clinical trials. For instance, the NURTURE study showed that SMA patients treated with nusinersen presymptomatically achieved near-normal motor development. Similarly, early gene therapy has been linked to improved outcomes and reduces the need for ventilatory support. This result underscores the necessity of implementing newborn screening, the newborn screening programs, and refining diagnostic pipelines...
Early intervention is critical in these cases and has been validated in clinical studies and clinical trials. For instance, the NURTURE study showed that SMA patients treated with nusinersen presymptomatically achieved near-normal motor development. Similarly, early gene therapy has been linked to improved outcomes and reduces the need for ventilatory support. This result underscores the necessity of implementing newborn screening, the newborn screening programs, and refining diagnostic pipelines. Early treatment is very important and crucial for the efficacy of this novel therapy, molecular therapy. Today, some challenges persist. Firstly, the cost of therapies raises the issues of reimbursement and equitable access, particularly in low- and middle-income countries. Second, treatment eligibility is often mutation-specific, leaving patients with unknown or non-targetable genotypes and services. Third, there are concerns about immunogenicity, vector delivery efficiency, and especially long-term safety, particularly with systemic AAV-based therapy. And we need more real-world data, more real-world studies to assess the sustained efficacy over time and monitor adverse events longitudinally. These are all recent therapies. We have not had a clear and long follow-up. It is very important to understand the efficacy and the safety on a long-term basis of many of these drugs.
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