Decisions made by two consultants to deny a 10 year old girl with type 3 spinal muscular atrophy the chance of treatment with a potentially life changing drug were “unlawful” and “irrational,” three Court of Appeal judges have ruled.1 Imelda Hughes, a consultant paediatric neurologist at Manchester University Hospitals NHS Foundation Trust, and Mariacristina Scoto, a consultant in neuromuscular translational research at Great Ormond Street Hospital for Children NHS Foundation Trust, decided that Sophie Basma did not meet the criteria for treatment. The drug nusinersin (Spinraza), which has a list price of £450 000 (€520 000; $630 000) for the first year and £225 000 for subsequent years but is supplied to the NHS at a discount, is the only potentially disease modifying treatment available in the UK for Sophie’s condition. The UK National Institute for Health and Care Excellence issued guidance in October 2019 stating that it should be provided to patients with type 3 spinal muscular atrophy provided that seven criteria were …

中文翻译：

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根据上诉法院的规定，医生非法向患有脊髓性肌萎缩症的女孩​​否认毒品

三名上诉法院法官裁定，两名顾问拒绝给一名10岁的3型脊髓性肌萎缩症女孩以可能改变生命的药物进行治疗的机会“非法”和“不合理”。1伊梅尔达·休斯（Imelda Hughes）曼彻斯特大学医院NHS基金会信托基金会的儿科神经病学顾问和NHS基金会信托基金的大奥蒙德街儿童医院神经肌肉转化研究顾问Mariacristina Scoto认为Sophie Basma不符合治疗标准。Nusinersin（Spinraza）药物是唯一潜在的疾病，其第一年的标价为450 000英镑（520 000欧元； 63万美元），随后几年的标价为22.5万英镑，但以折扣价提供给NHS。修改英国可用于索菲病的治疗方法。