Schroth Mary K, Deans Jennifer, Bharucha Goebel Diana X, Burnette W Bryan, Darras Basil T, Elsheikh Bakri H, Felker Marcia V, Klein Andrea, Krueger Jena, Proud Crystal M, Veerapandiyan Aravindhan, Graham Robert J
Cure SMA (MKS); Clinical Care Education (JD), Cure SMA; Neurology and Pediatrics (DBG), Children's National, and National Institute of Neurological Diseases and Stroke, National Institutes of Health; Division of Neurology (WBB), Department of Pediatrics, Vanderbilt University; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School; Department of Neurology (BHE), The Ohio State University Wexner Medical Center; Child Neurology (MVF), Indiana University; Division of Neuropediatrics (AK), Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital; Pediatric Neuromuscular (JK), Helen DeVos Children's Hospital; Neurology (CMP), Children's Hospital of the King's Daughters; Department of Pediatrics (AV), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital; and Department of Anesthesiology (RJG), Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School.
Neurol Clin Pract. 2025 Feb;15(1):e200374. doi: 10.1212/CPJ.0000000000200374. Epub 2024 Oct 8.
Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by biallelic variants of the gene () that affects approximately 1 in 15,000 live births. Availability of 3 SMN-enhancing treatments for SMA has led to urgency to review how clinicians and patients use these treatments for SMA, while additional research and real-world data and experience are being collected. This work describes important factors to assist with decision-making for SMN-enhancing treatments.
A systematic literature review was conducted on SMN-enhancing treatments for SMA and related studies. A working group of American and European health care providers with expertise in SMA care identified barriers and developed recommendations through a modified Delphi technique with serial surveys and feedback through virtual meetings to fill gaps for information where evidence is limited. A community working group of an individual living with SMA and caregivers provided insight and perspective on SMA treatments and support through a virtual meeting to guide recommendations.
The health care provider working group and the community working group agreed that when determining whether to start, change, add, or discontinue a treatment, essential considerations include patient and family/caregiver perspective, and treatment safety and side effects. When initiating treatment for patients newly diagnosed with SMA, important patient characteristics are age and gene copy number. Furthermore, when initiating, changing, or adding treatment, current clinical status and comorbidities drive decision-making. When considering a medication or treatment plan change, unless there is an urgent indication, a treatment and associated patient outcomes should be monitored for a minimum of 6-12 months. When determining a treatment plan with an adolescent or adult with SMA, consider factors such as quality of life, burden vs benefit of treatment, and reproductive issues. Access to care coordination and interdisciplinary/multidisciplinary care are essential to treatment success.
Sharing information about current knowledge of treatments and shared decision-making between health care providers and patients living with SMA and caregivers are essential to overcoming barriers to providing SMN-enhancing treatments.
脊髓性肌萎缩症（SMA）是一种常染色体隐性疾病，由 基因的双等位基因变异引起，活产婴儿中发病率约为1/15000。三种用于增强生存运动神经元（SMN）的SMA治疗方法的出现，使得在收集更多研究以及真实世界数据和经验的同时，迫切需要审视临床医生和患者如何使用这些治疗方法。这项工作描述了有助于做出使用增强SMN治疗决策的重要因素。
对用于增强SMN的SMA治疗方法及相关研究进行了系统的文献综述。一个由美国和欧洲在SMA护理方面具有专业知识的医疗保健提供者组成的工作组，通过改良的德尔菲技术，通过系列调查以及虚拟会议反馈，识别障碍并制定建议，以填补证据有限时的信息空白。一个由SMA患者个体及其护理人员组成的社区工作组，通过虚拟会议就SMA治疗和支持提供见解和观点，以指导建议制定。
医疗保健提供者工作组和社区工作组一致认为，在决定是否开始、改变、增加或停止一种治疗时，基本考虑因素包括患者以及家庭/护理人员的观点，以及治疗的安全性和副作用。在为新诊断的SMA患者开始治疗时，重要患者特征是年龄和SMN基因拷贝数。此外，在开始、改变或增加治疗时，当前临床状况和合并症驱动决策制定。在考虑改变药物或治疗方案时，除非有紧急指征，应至少监测治疗及相关患者结局6至12个月。在为患有SMA的青少年或成人确定治疗方案时，要考虑生活质量、治疗负担与获益以及生殖问题等因素。获得护理协调以及跨学科/多学科护理对于治疗成功至关重要。
分享有关当前治疗知识的信息以及医疗保健提供者与SMA患者及其护理人员之间的共同决策，对于克服提供增强SMN治疗的障碍至关重要。
