Ramos-Platt Leigh, Elman Lauren, Shieh Perry B
Department of Pediatrics, Keck School of Medicine, University of Southern California and Children's Hospital of Los Angeles, Los Angeles, CA, USA.
Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA.
Int J Gen Med. 2022 Sep 17;15:7341-7353. doi: 10.2147/IJGM.S369021. eCollection 2022.
Spinal muscular atrophy (SMA) is a rare, progressive neuromuscular disorder that, until recently, was the most common inherited cause of infant mortality. Since 2016, three disease-modifying therapies have emerged, nusinersen, onasemnogene abeparvovec-xioi, and risdiplam, leading to a transformation in the SMA treatment landscape, changes in disease trajectories, and a profound impact on clinical care. This environment poses a challenge to making informed treatment decisions, including initial treatment choice, treatment changes, and potential use of combination therapies as new data emerge. To better understand factors that influence physician-patient decision-making, a roundtable discussion was convened by Biogen (sponsor) with a panel of four US SMA experts. This report shares the panel's opinions and clinical experiences, with the goals of helping clinicians and people with SMA and their families to better understand the factors influencing real-world treatment decisions and stimulating a broader discussion in the SMA community. The panelists highlighted that patients are often heavily involved in treatment decisions, and physicians must be aware of current data to guide patients in making the best decisions. Thus, in the absence of data from head-to-head treatment comparisons, physicians' roles include reviewing treatment options and describing what is known of the benefits, challenges, and potential side effects of each therapy with patients and families. For infants and young children, the panelists expressed a sense of urgency for early intervention to minimize motor function loss, whereas the goal for adults is long-term disease stabilization. In the panelists' experience, factors that influence patients' decisions to change to an alternative therapy include convenience, administration route, novelty of therapy, and hope for improved function, while reasons for returning to a previous therapy include a perception of decreased efficacy and side effects. Ongoing clinical trials and analyses of real-world experiences should further inform treatment decisions and optimize patient outcomes.
脊髓性肌萎缩症（SMA）是一种罕见的进行性神经肌肉疾病，直到最近，它还是婴儿死亡最常见的遗传原因。自2016年以来，出现了三种疾病修正疗法，即诺西那生钠、onasemnogene abeparvovec-xioi和利司扑兰，这导致了SMA治疗格局的转变、疾病轨迹的变化，并对临床护理产生了深远影响。这种情况对做出明智的治疗决策提出了挑战，包括初始治疗选择、治疗变更以及随着新数据出现联合疗法的潜在使用。为了更好地理解影响医患决策的因素，百健公司（主办方）召集了一个由四位美国SMA专家组成的小组进行了一次圆桌讨论。本报告分享了该小组的意见和临床经验，目的是帮助临床医生、SMA患者及其家属更好地理解影响现实世界治疗决策的因素，并在SMA社区引发更广泛的讨论。小组成员强调，患者通常深度参与治疗决策，医生必须了解当前数据，以指导患者做出最佳决策。因此，在缺乏头对头治疗比较数据的情况下，医生的职责包括审查治疗方案，并向患者及其家属描述每种疗法已知的益处、挑战和潜在副作用。对于婴幼儿，小组成员表达了尽早干预以尽量减少运动功能丧失的紧迫感，而对于成年人，目标是实现疾病的长期稳定。根据小组成员的经验，影响患者决定改用替代疗法的因素包括便利性、给药途径、疗法的新颖性以及对功能改善的期望，而恢复使用先前疗法的原因包括感觉疗效降低和出现副作用。正在进行的临床试验和对现实世界经验的分析应进一步为治疗决策提供信息，并优化患者的治疗效果。
