Novartis Gene Therapies, Inc., 2275 Half Day Road, Suite 200, Bannockburn, IL, 60015, USA.
Analysis Group, Inc., Boston, MA, USA.
Adv Ther. 2023 Dec;40(12):5315-5337. doi: 10.1007/s12325-023-02685-w. Epub 2023 Sep 30.
Onasemnogene abeparvovec (OA) is the only gene replacement therapy currently approved for spinal muscular atrophy (SMA) treatment. We sought to assess real-world patient and caregiver outcomes after OA treatment for SMA.
Patients who received OA were identified from the 2021 Cure SMA Membership Survey. Those treated at 6-23 months of age were matched to non-patients treated with OA on the basis of age at the time of survey and survival motor neuron 2 gene copy number. Patient characteristics, motor milestones, and resource and supportive care use, as well as caregiver proxy-reported health-related quality of life (HRQOL), were described. Caregiver unmet needs and HRQOL were also assessed.
Of the 614 patients in the survey, 64 received OA, and 17 were matched with 28 non-OA-treated patients. In general, a greater percentage of OA-treated patients achieved various motor milestones, including 100% sitting without support and 58.8% walking with assistance. OA-treated patients also had numerically lower rates of hospitalization and surgery. None required tracheostomy with a ventilator. The rate of using oxygen or a breathing machine for more than 16 h was also lower for OA-treated patients. OA-treated patients had less frequent trouble swallowing. HRQOL was reported to be similar to non-OA-treated patients. Caregivers of OA-treated patients reported better patient mobility scores and less work impairment.
The study suggests that treatment with OA is associated with greater rates of motor milestone achievements and less resource and supportive care use for patients with SMA treated at 6-23 months of age in the real world. For caregivers, it may also potentially reduce unmet needs, improve HRQOL, and reduce work impairment.
Onasemnogene abeparvovec（OA）是唯一一种获批用于脊髓性肌萎缩症（SMA）治疗的基因替代疗法。我们旨在评估 OA 治疗 SMA 后的真实世界患者和照护者结局。
从 2021 年 Cure SMA 会员调查中确定接受 OA 治疗的患者。根据调查时的年龄和生存运动神经元 2 基因拷贝数，将接受 OA 治疗的患者与接受 OA 治疗的非患者相匹配。描述了患者特征、运动里程碑、资源和支持性护理使用情况，以及照护者报告的健康相关生活质量（HRQOL）。还评估了照护者的未满足需求和 HRQOL。
在调查的 614 名患者中，有 64 名接受了 OA 治疗，17 名患者与 28 名未接受 OA 治疗的患者相匹配。总体而言，接受 OA 治疗的患者达到各种运动里程碑的比例更高，包括 100%无需支撑即可独坐和 58.8%在辅助下行走。接受 OA 治疗的患者的住院和手术率也较低。无患者需要带呼吸机进行气管切开术。接受 OA 治疗的患者使用氧气或呼吸机超过 16 小时的比例也较低。接受 OA 治疗的患者吞咽困难的情况较少。报告的 HRQOL 与未接受 OA 治疗的患者相似。接受 OA 治疗的患者的照护者报告患者的移动能力评分更好，工作障碍更少。
研究表明，在真实世界中，6-23 个月龄接受 OA 治疗的 SMA 患者，其运动里程碑的达成率更高，资源和支持性护理的使用频率更低。对于照护者，它还可能潜在地减少未满足的需求，改善 HRQOL，并减少工作障碍。
