脊髓性肌萎缩症的救命疗法：全球可及性与可得性
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.
作者信息
Armengol Victor D, Darras Basil T, Abulaban Ahmad A, Alshehri Ali, Barisic Nina, Ben-Omran Tawfeg, Bernert Guenther, Castiglioni Claudia, Chien Yin-Hsiu, Farrar Michelle A, Kandawasvika Gwendoline, Khadilkar Satish, Mah Jean, Marini-Bettolo Chiara, Osredkar Damjan, Pfeffer Gerald, Piazzon Flavia B, Pitarch Castellano Inmaculada, Quijano-Roy Susana, Saito Kayoko, Shin Jin-Hong, Vázquez-Costa Juan F, Walter Maggie C, Wanigasinghe Jithangi, Xiong Hui, Griggs Robert C, Roy Bhaskar
机构信息
Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.
出版信息
Neurol Clin Pract. 2024 Feb;14(1):e200224. doi: 10.1212/CPJ.0000000000200224. Epub 2023 Dec 15.
BACKGROUND AND OBJECTIVES
Spinal muscular atrophy (SMA) is a neurodegenerative disorder manifesting with progressive muscle weakness and atrophy. SMA type 1 used to be fatal within the first 2 years of life, but is now treatable with therapies targeting splicing modification and gene replacement. Nusinersen, risdiplam, and onasemnogene abeparvovec-xioi improve survival, motor strength, endurance, and ability to thrive, allowing many patients to potentially attain a normal life; all have been recently approved by major regulatory agencies. Although these therapies have revolutionized the world of SMA, they are associated with a high economic burden, and access to these therapies is limited in some countries. The primary objective of this study was to compare the availability and implementation of treatment of SMA from different regions of the world.
METHODS
In this qualitative study, we surveyed health care providers from 21 countries regarding their experiences caring for patients with SMA. The main outcome measures were provider survey responses on newborn screening, drug availability/access, barriers to treatment, and related questions.
RESULTS
Twenty-four providers from 21 countries with decades of experience (mean 26 years) in treating patients with SMA responded to the survey. Nusinersen was the most available therapy for SMA. Our survey showed that while genetic testing is usually available, newborn screening is still unavailable in many countries. The provider-reported treatment cost also varied between countries, and economic burden was a major barrier in treating patients with SMA.
DISCUSSION
Overall, this survey highlights the global inequality in managing patients with SMA. The spread of newborn screening is essential in ensuring improved access to care for patients with SMA. With the advancement of neurotherapeutics, more genetic diseases will soon be treatable, and addressing the global inequality in clinical care will require novel approaches to mitigate such inequality in the future.
背景与目的
脊髓性肌萎缩症（SMA）是一种神经退行性疾病，表现为进行性肌肉无力和萎缩。1型SMA过去常在生命的头2年内致命，但现在可通过针对剪接修饰和基因替代的疗法进行治疗。诺西那生钠、利司扑兰和onasemnogene abeparvovec-xioi可提高生存率、运动强度、耐力和茁壮成长的能力，使许多患者有可能过上正常生活；所有这些药物最近都已获得主要监管机构的批准。尽管这些疗法给SMA领域带来了变革，但它们带来了高昂的经济负担，并且在一些国家，获得这些疗法的机会有限。本研究的主要目的是比较世界不同地区SMA治疗的可及性和实施情况。
方法
在这项定性研究中，我们调查了来自2l个国家的医疗保健提供者，了解他们照顾SMA患者的经历。主要结局指标是提供者对新生儿筛查、药物可及性/获取情况、治疗障碍及相关问题的调查回复。
结果
来自21个国家的24名在治疗SMA患者方面拥有数十年经验（平均26年）的提供者回复了调查。诺西那生钠是SMA最容易获得的疗法。我们的调查显示，虽然基因检测通常可以进行，但在许多国家新生儿筛查仍然无法开展。提供者报告的治疗费用在不同国家也有所不同，经济负担是治疗SMA患者的一个主要障碍。
讨论
总体而言，这项调查凸显了全球在管理SMA患者方面的不平等。新生儿筛查的普及对于确保SMA患者获得更好的护理至关重要。随着神经治疗学的进步，更多的遗传疾病很快将可得到治疗，而解决临床护理中的全球不平等问题将需要新的方法来减轻未来的这种不平等。
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