Istituto Neurologico Carlo Besta, Milan, Italy.
Charité Universitätsmedizin Berlin, Berlin, Germany.
Neurol Ther. 2015 Dec;4(2):105-24. doi: 10.1007/s40120-015-0034-0. Epub 2015 Nov 2.
Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disorder affecting the neuromuscular junction, clinically characterized by proximal muscle weakness and autonomic changes. LEMS is often associated with an underlying tumor (paraneoplastic form) but also occurs in the absence of cancer (idiopathic form). Treatment consists of immunomodulation (immunosuppression), anticancer treatment when carcinoma is present, and symptomatic treatment [acetylcholinesterase inhibitors and potassium channel blockers, e.g., amifampridine (3,4-diaminopyridine, i.e., 3,4-DAP), to improve neurotransmission]. Although there has long been information from case reports, several randomized controlled trials, and treatment guidelines, population data are still scarce.
The LEMS patient registry was launched in the European community in mid-2010 as a voluntary, multinational, observational, non-interventional program to collect structured empirical data on clinical course, treatment utilization, and safety and efficacy from the use of LEMS-specific treatments.
Sixty-nine patients have been enrolled [36 males, 32 females, 1 gender not reported; mean age 61.5 (27-84) years]. Eighteen patients (26%) were diagnosed with an associated carcinoma. At the time of enrollment, the majority of patients (65%) were receiving amifampridine [either compounded 3,4-DAP (22%) or 3,4-DAP phosphate, Firdapse(®) (43%)]. At enrollment, most patients demonstrate a profile of mild-to-moderate deficits in daily functioning but generally have good muscle strength, albeit with reduced deep tendon reflexes, frequent ataxia during walking, and signs of autonomic dysfunction including dry mouth, bladder dysfunction, and constipation.
The LEMS European Union registry will continue to enroll patients and periodically report the accrued longitudinal data obtained on clinical assessments and laboratory findings, treatment practices, the safety and efficacy of treatment approaches, and long-term clinical outcomes.
BioMarin Pharmaceutical Inc., Novato, CA, USA.
Lambert-Eaton 肌无力综合征（LEMS）是一种罕见的影响神经肌肉接头的自身免疫性疾病，临床上表现为近端肌无力和自主神经改变。LEMS 常与潜在肿瘤相关（副肿瘤形式），但也可在无癌症的情况下发生（特发性形式）。治疗包括免疫调节（免疫抑制）、存在癌时进行抗癌治疗以及对症治疗[乙酰胆碱酯酶抑制剂和钾通道阻滞剂，例如阿米福丁（3,4-二氨基吡啶，即 3,4-DAP），以改善神经传递]。尽管有很长时间以来一直有来自病例报告、几项随机对照试验和治疗指南的信息，但人群数据仍然很少。
LEMS 患者登记册于 2010 年年中在欧洲共同体启动，作为一项自愿的、多国的、观察性的、非干预性计划，旨在收集有关 LEMS 特定治疗的临床过程、治疗利用以及安全性和疗效的结构化经验数据。
共纳入 69 例患者[36 例男性，32 例女性，1 例性别未报告；平均年龄 61.5（27-84）岁]。18 例（26%）患者诊断为伴发癌。在入组时，大多数患者（65%）正在接受阿米福丁治疗[无论是复合 3,4-DAP（22%）还是 3,4-DAP 磷酸盐，Firdapse®（43%）]。在入组时，大多数患者的日常生活功能轻度至中度受损，但肌肉力量通常较好，尽管深腱反射减弱，行走时常出现共济失调，并有自主神经功能障碍的迹象，包括口干、膀胱功能障碍和便秘。
LEMS 欧盟登记册将继续招募患者，并定期报告获得的关于临床评估和实验室发现、治疗实践、治疗方法的安全性和疗效以及长期临床结局的累积纵向数据。
美国加利福尼亚州诺瓦托的 BioMarin 制药公司。
