From the Department of Neurology (J.O.B., R.J., M.S., S.K.V.), The Johns Hopkins School of Medicine, The Neurofibromatosis Therapeutic Acceleration Program, Baltimore, MD; Department of Dermatology (P.W.), Paris Est Créteil University, France; Pediatric Oncology Branch (B.C.W.), National Cancer Institute, NIH, Bethesda, MD; Dermavant Sciences (J.L.), Durham, NC; and Department of Dermatology (L.Q.L.), UT Southwestern Medical Center, Dallas, TX.
Neurology. 2018 Jul 10;91(2 Suppl 1):S1-S4. doi: 10.1212/WNL.0000000000005789.
Outside of procedural-based methods, there are currently no established medical treatments for cutaneous neurofibroma (cNF), which afflict up to 99% of patients with NF1. Further, adult patients often report cNF are the greatest burden of living with NF1. The Neurofibromatosis Therapeutic Acceleration Program (NTAP) launched a think tank to address core questions to facilitate development of effective therapeutics for cNF in people with NF1.
Experts (with and without explicit experience with NF1 or cNF) from multiple scientific and medical disciplines, representing the ranks of academia, industry, and government agencies, were invited to become a member of a team addressing a specific subset of questions pertinent to cNF. Teams met monthly to review published and unpublished materials, and created summaries about the material known and unknown that may influence therapeutic development for cNF. Teams prioritized questions and organized supporting data, which was presented to the entire body of experts by each team at a research summit.
Four themes were identified as being relevant to creating a comprehensive research strategy for cNF: (1) establishing definitions of cNF, (2) determining the biology of cNF with respect to tumor initiation, progression, and maintenance, (3) outlining the factors that guide therapies development, and (4) defining core considerations for clinical trials design and optimization for cNF.
Considerations and key questions for each of the thematic areas were identified and provided basis for a request for applications launched by NTAP focused on cNF and are described in the accompanying articles of this supplement.
除了基于程序的方法之外，目前还没有针对皮肤神经纤维瘤 (cNF) 的既定医学治疗方法，而高达 99%的 NF1 患者都患有 cNF。此外，成年患者通常报告 cNF 是 NF1 患者生活中最大的负担。神经纤维瘤病治疗加速计划 (NTAP) 成立了一个智库，以解决核心问题，为 NF1 患者的 cNF 开发有效的治疗方法。
来自多个科学和医学学科的专家（包括具有和不具有 NF1 或 cNF 明确经验的专家），代表学术界、工业界和政府机构的各个阶层，受邀成为一个团队的成员，该团队负责解决与 cNF 相关的特定子集问题。团队每月开会，审查已发表和未发表的材料，并创建有关已知和未知材料的摘要，这些材料可能会影响 cNF 的治疗开发。团队确定了问题的优先级，并组织了支持数据，然后由每个团队在研究峰会上向全体专家展示。
确定了四个与创建 cNF 综合研究策略相关的主题：（1）建立 cNF 的定义，（2）确定 cNF 的生物学，包括肿瘤的起始、进展和维持，（3）概述指导治疗开发的因素，（4）定义 cNF 临床试验设计和优化的核心考虑因素。
确定了每个主题领域的考虑因素和关键问题，并为 NTAP 针对 cNF 发布的申请请求提供了基础，这些内容在本增刊的相关文章中进行了描述。
