GW Pharmaceuticals (A Jazz Pharmaceuticals company), London, UK.
Costello Medical, Cambridge, UK.
Brain Behav. 2022 Jul;12(7):e2622. doi: 10.1002/brb3.2622. Epub 2022 Jun 28.
The onset of severe, drug-resistant seizures in early childhood is characteristic of the rare epileptic disorders Lennox-Gastaut syndrome (LGS), Dravet syndrome (DS), and CDKL5 deficiency disorder (CDD) and is frequently observed in the rare genetic conditions tuberous sclerosis complex (TSC) and Rett syndrome (RTT). High-quality treatment guidelines are needed for optimal management of these conditions. This review aimed to assess content, availability, and development of treatment guidelines for these disorders in the Nordics region (Denmark, Finland, Iceland, Norway, and Sweden).
A targeted literature review (TLR) was therefore conducted in November/December 2020 by manually searching online rare disease and guideline databases in addition to relevant health technology assessment and regulatory agency websites to identify pharmacological treatment guidelines for DS, LGS, TSC, RTT, and CDD. Search terms for each disorder were translated to identify country-specific guidelines. Treatment recommendations, geographical focus, and guideline development methodology was extracted into a predetermined extraction grid.
Most of the 24 eligible guidelines identified (16/24; 66%) were specific to particular countries; Sweden was the most represented (7/24 [29%] guidelines), while no guidelines were identified for Iceland. Guideline development methodologies were heterogeneous, including systematic literature reviews/TLRs and expert consultation; several methodologies did not report details on the evidence sources used (7/24 [29%] guidelines). Treatment recommendation availability was variable across disorders, ranging from 126 treatment recommendations (LGS) to none (RTT, CDD).
Comprehensive, consensus-based treatment guidance developed via international collaboration within the Nordics region is necessary to optimize patient care in these five rare epileptic conditions.
严重、耐药性癫痫发作在儿童早期出现是罕见的癫痫疾病 Lennox-Gastaut 综合征（LGS）、Dravet 综合征（DS）和 CDKL5 缺乏症（CDD）的特征，并且经常在罕见的遗传疾病结节性硬化症（TSC）和雷特综合征（RTT）中观察到。需要高质量的治疗指南来优化这些疾病的管理。本综述旨在评估北欧地区（丹麦、芬兰、冰岛、挪威和瑞典）这些疾病的治疗指南的内容、可用性和制定情况。
因此，在 2020 年 11 月/12 月，通过手动搜索在线罕见疾病和指南数据库，以及相关的卫生技术评估和监管机构网站，进行了有针对性的文献综述（TLR），以确定 DS、LGS、TSC、RTT 和 CDD 的药物治疗指南。为每个疾病翻译了搜索词以确定特定于国家的指南。将治疗建议、地理重点和指南制定方法提取到预定的提取网格中。
确定的 24 项合格指南中的大多数（16/24；66%）是特定于特定国家的；瑞典的代表最多（24 项指南中有 7 项[29%]），而冰岛没有确定的指南。指南制定方法多种多样，包括系统文献综述/TLR 和专家咨询；有几个方法没有报告使用的证据来源的详细信息（24 项指南中有 7 项[29%]）。疾病之间的治疗建议可用性各不相同，从 126 项治疗建议（LGS）到无（RTT、CDD）。
北欧地区需要通过国际合作制定全面的、基于共识的治疗指南，以优化这五种罕见癫痫疾病的患者护理。
