Cattinari Maria Grazia, De Lemus Mencía, Dumont Maria, Tizzano Eduardo
Fundación de Atrofia Muscular Espinal, FundAME, 28034 Madrid, España.
SMA Europe, 79112 Freiburg, Germany.
Rev Neurol. 2025 Mar 27;80(2):33462. doi: 10.31083/RN33462.
Spinal muscular atrophy (SMA) is a neurodegenerative disease in which there has been an increase in survival over the past decade due to proactive, multidisciplinary management and the emergence of disease-modifying therapies. Despite this, there are still several critical challenges that significantly impact the quality of life of individuals with SMA individuals. Given the need to better understand the reality of this disease, Fundación de Atrofia Muscular Espinal (FundAME) created a patient registry (RegistrAME).
RegistrAME is a longitudinal prospective study that collects clinical data and patient-reported outcomes.
The registry included 336 individuals, 51.8% of whom were over 16 years old. Most adult subpopulations were classed as type 2 (49.4%) or type 3 (44.8%). Regarding functional status, 19% walked (39.4% used wheelchairs), 46.6% sat without support (84% needed help to sit), and 34.5% were non-sitters. Furthermore, 24.7% reported having no useful function in their hands or not being able to reach their mouths with their hands. Our study indicates that the adult SMA population is progressively accessing disease-modifier treatments. However, 21.8% of the population is still untreated.
These results provide evidence of a progressive impairment and increased sensitivity to treatment discontinuations in the SMA adult population, along with delayed or reduced access to commercialised SMA drugs and clinical trials. A more rigorous evaluation of the disease's impact and treatment benefits in the adult SMA population is necessary.
脊髓性肌萎缩症（SMA）是一种神经退行性疾病，在过去十年中，由于积极的多学科管理以及疾病修饰疗法的出现，患者的生存率有所提高。尽管如此，仍存在一些重大挑战，严重影响了SMA患者的生活质量。鉴于需要更好地了解这种疾病的实际情况，西班牙脊髓性肌萎缩症基金会（FundAME）创建了一个患者登记处（RegistrAME）。
RegistrAME是一项纵向前瞻性研究，收集临床数据和患者报告的结果。
该登记处纳入了336名个体，其中51.8%年龄超过16岁。大多数成年亚组被归类为2型（49.4%）或3型（44.8%）。关于功能状态，19%的人能够行走（39.4%使用轮椅），46.6%的人无需支撑就能坐下（84%坐下时需要帮助），34.5%的人无法坐下。此外，24.7%的人报告手部没有有效功能或无法用手触及嘴巴。我们的研究表明，成年SMA患者群体越来越多地接受疾病修饰治疗。然而，仍有21.8%的患者未接受治疗。
这些结果证明了SMA成年患者群体功能逐渐受损，对治疗中断的敏感性增加，同时获得商业化SMA药物和临床试验的机会延迟或减少。有必要对成年SMA患者群体中疾病的影响和治疗益处进行更严格的评估。
