118P Characterization of patients with Type 1 Spinal Muscular Atrophy in advanced disease state treated with Nusinersen

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2024-10-01 DOI:10.1016/j.nmd.2024.07.025

J. Balkenhol , M. Beytia , J. Jofre , B. Suarez , C. Hervias , G. Calcagno , C. Castiglioni

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引用次数: 0

Abstract

There are few reports on the response to Nusinersen therapy in Spinal Muscular Atrophy (SMA) type 1 patients with tracheostomy and in an advanced stage of the disease. We present long term follow-up from two Chilean centers, which collectively manage 94 pediatric patients with SMA on disease-modifying therapies. To describe the motor response to Nusinersen treatment in SMA1 patients with tracheostomy based on the CHOP-INTEND scale. A total of 13 patients were included in the study (SMA type; 1A n= ; 1B n=5; 1C n=3, 7 males (54%), with 12 having 2 copies of the SMN2 gene (92%) and one with 3 copies (8%), all requiring tracheostomy and gastrostomy, 11 of them (85%) were users prior to the start of Nusinersen therapy. Patients had a mean age of 4 months and 2 weeks at diagnosis (range 1 month - 9 months) and an average age of 4 years 1 month (range 1 month and 8 years 5 months) at the start of treatment. Follow-up was performed using the CHOP-INTEND scale. The average follow-up duration for the patients was 4 years and 5 months, from the start of therapy until the present date, until their death or change of therapy, with a range from 1 year and 6 months to 5 years and 4 months. Most patients continued to require tracheostomy and gastrostomy during follow-up. All patients showed improvement on the motor scale, on a variable degree. One patient showed an increase in 44 points and five patients in 10 points or more. One patient experienced adverse effects during treatment. No children discontinued treatment due to adverse events. One patient died during follow-up due to sudden death. All patients with advanced type 1 SMA continued to require tracheostomy and gastrostomy after receiving therapy. All patients showed improvements in the motor scale, but the response varied among patients with significant points and ranges, the majority significant. None without response. Only one patient experienced adverse effects and one died.

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118P 用 Nusinersen 治疗晚期 1 型脊髓性肌肉萎缩症患者的特征描述

关于患有气管切开术且处于疾病晚期的脊髓性肌肉萎缩症（SMA）1 型患者对纽西奈森疗法的反应的报道很少。我们介绍了智利两家中心的长期随访情况，这两家中心共管理着 94 名接受疾病调节疗法的 SMA 儿童患者。根据 CHOP-INTEND 量表描述气管切开的 SMA1 患者对 Nusinersen 治疗的运动反应。该研究共纳入了13名患者（SMA类型；1A n= ；1B n=5 ；1C n=3，7名男性（54%），其中12名患者有2个SMN2基因拷贝（92%），1名患者有3个拷贝（8%），所有患者都需要气管造口术和胃造口术，其中11名患者（85%）在开始使用纽西奈森治疗前已使用过该疗法。患者确诊时的平均年龄为 4 个月零 2 周（1 个月至 9 个月），开始治疗时的平均年龄为 4 岁 1 个月（1 个月至 8 岁 5 个月）。随访采用 CHOP-INTEND 量表进行。患者的平均随访时间为 4 年零 5 个月，从开始治疗至今，直至死亡或更换治疗方案，范围从 1 年零 6 个月到 5 年零 4 个月不等。大多数患者在随访期间仍需进行气管造口术和胃造口术。所有患者的运动量表均有不同程度的改善。一名患者的运动量增加了 44 分，五名患者增加了 10 分或更多。一名患者在治疗期间出现了不良反应。没有儿童因不良反应而中断治疗。一名患者在随访期间因猝死而死亡。所有晚期 1 型 SMA 患者在接受治疗后仍需进行气管造口术和胃造口术。所有患者的运动量表均有所改善，但不同患者的反应不尽相同，均有显著的改善点和改善范围，其中大多数患者有显著改善。无一例无反应。只有一名患者出现不良反应，一名患者死亡。

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来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.