Introduction

The neurofibromatoses comprise three different genetic conditions causing considerable morbidity and mortality: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). This review summarizes recent and ongoing clinical trials involving patients with neurofibromatoses to better understand the current state of clinical trial research centered around these conditions and inform areas of need.

Methods

A search was conducted using the Cochrane Central Register of Controlled Trials and clinicaltrials.gov databases. Inclusion and exclusion criteria were designed to identify clinical trials focused on patients with NF1, NF2, or SWN completed in or after 2010 and in process as of December 31, 2021. Information was collected using standardized guidelines.

Results

A total of 134 clinical trials were included, with 75 (56%) completed and 59 (44%) in process. For completed trials, 74% (n = 56) involved patients with NF1, and of those based on specific tumors (n = 26, 46%), the majority focused on plexiform neurofibromas (PNs) (n = 12, 46%). For ongoing trials, 79% (n = 47) involve patients with NF1, and of those based on specific tumors (n = 29, 61%), the majority are focused on PNs (n = 13, 45%).

Conclusion

Both recent and ongoing clinical trials have primarily focused on patients with NF1 and the treatment of PNs. This research has led to the first FDA-approved drug for NF1-PN and has changed management of these tumors, allowing for systemic therapy rather than reliance on only a surgical modality. Trials evaluating comorbid psychiatric conditions and quality of life among patients with any of the neurofibromatoses appear less common. These areas may warrant focus in future studies to improve clinical management.

中文翻译：

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对神经纤维瘤患者近期和正在进行的临床试验的系统评价

介绍

神经纤维瘤病包括三种不同的遗传病，导致相当大的发病率和死亡率：1 型神经纤维瘤病 (NF1)、2 型神经纤维瘤病 (NF2) 和神经鞘瘤病 (SWN)。本综述总结了近期和正在进行的涉及神经纤维瘤病患者的临床试验，以更好地了解以这些疾病为中心的临床试验研究的现状并告知需要的领域。

方法

使用 Cochrane Central Register of Controlled Trials 和clinicaltrials.gov 数据库进行了搜索。纳入和排除标准旨在确定针对 2010 年或之后完成的 NF1、NF2 或 SWN 患者以及截至 2021 年 12 月 31 日正在进行的临床试验。使用标准化指南收集信息。

结果

共纳入 134 项临床试验，其中 75 项 (56%) 已完成，59 项 (44%) 正在进行中。对于已完成的试验，74% (n = 56) 涉及 NF1 患者，在基于特定肿瘤的患者中 (n = 26, 46%)，大多数集中在丛状神经纤维瘤 (PN) (n = 12, 46%)。对于正在进行的试验，79% (n = 47) 涉及 NF1 患者，在基于特定肿瘤的患者中 (n = 29, 61%)，大多数集中在 PNs (n = 13, 45%)。

结论

最近和正在进行的临床试验主要集中在 NF1 患者和 PN 的治疗上。这项研究促成了 FDA 批准的第一个 NF1-PN 药物，并改变了这些肿瘤的管理，允许全身治疗，而不是仅仅依赖手术方式。在患有任何神经纤维瘤病的患者中评估合并精神疾病和生活质量的试验似乎不太常见。这些领域可能需要在未来的研究中重点关注，以改善临床管理。