Giannoccaro Maria Pia, Sallemi Giombattista, Liguori Rocco, Plazzi Giuseppe, Pizza Fabio
Department of Biomedical and Neuromotor Sciences, University of Bologna, Ospedale Bellaria, Padiglione G, piano 1, Via Altura 3, 40139 Bologna, Italy.
IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
Curr Treat Options Neurol. 2020 Jan 30;22(1):2. doi: 10.1007/s11940-020-0609-7.
Narcolepsy type 1 (NT1) is a chronic and disabling sleep disorder due to the loss of hypocretinergic neurons in the lateral hypothalamus pathophysiologically linked to an autoimmune process. Current treatment is symptomatic, and no cure is available to date. Immunotherapy is considered a promising future therapeutic option, and this review discusses the rationale for immunotherapy in narcolepsy, current evidences of its effects, outcome measures, and future directions.
A limited number of case reports and uncontrolled small case series have reported the effect of different immunotherapies in patients with NT1. These studies were mainly based on the use of intravenous immunoglobulin (IVig), followed by corticosteroids, plasmapheresis, and monoclonal antibodies. Although initial reports showed an improvement of symptoms, particularly when patients were treated close to disease onset, other observations have not confirmed these results. Inadequate timing of treatment, placebo effects, and spontaneous improvement due to the natural disease course can account for these contrasting findings. Moreover, clear endpoints and standardized outcome measures have not been used and are currently missing in the pediatric population. On the basis of the available data, there are no enough evidences to support the use of immunotherapy in NT1. Randomized, controlled studies using clear endpoints and new outcome measures are needed to achieve a definitive answer about the usefulness of these treatments in narcolepsy.
1型发作性睡病（NT1）是一种慢性致残性睡眠障碍，由下丘脑外侧促食欲素能神经元缺失所致，其病理生理与自身免疫过程相关。目前的治疗是对症治疗，迄今尚无治愈方法。免疫疗法被认为是未来一种有前景的治疗选择，本综述讨论了发作性睡病免疫治疗的理论依据、其疗效的现有证据、结局指标及未来方向。
少数病例报告和非对照的小病例系列报道了不同免疫疗法对NT1患者的疗效。这些研究主要基于静脉注射免疫球蛋白（IVig）的使用，其次是皮质类固醇、血浆置换和单克隆抗体。尽管最初的报告显示症状有所改善，尤其是在疾病发作时就接受治疗的患者中，但其他观察结果并未证实这些结果。治疗时机不当、安慰剂效应以及疾病自然病程导致的自发改善可能是这些相互矛盾的结果的原因。此外，尚未使用明确的终点指标和标准化结局指标，目前儿科人群中也缺乏这些指标。根据现有数据，没有足够的证据支持在NT1中使用免疫疗法。需要采用明确终点指标和新结局指标的随机对照研究，以确定这些治疗方法在发作性睡病中的有效性。
