Ekins Sean, Litterman Nadia K, Arnold Renée J G, Burgess Robert W, Freundlich Joel S, Gray Steven J, Higgins Joseph J, Langley Brett, Willis Dianna E, Notterpek Lucia, Pleasure David, Sereda Michael W, Moore Allison
Hereditary Neuropathy Foundation, New York, NY, 10016, USA ; Collaborations in Chemistry, Fuquay Varina, NC, 27526, USA ; Collaborative Drug Discovery, Burlingame, CA, 94010, USA.
Collaborative Drug Discovery, Burlingame, CA, 94010, USA.
F1000Res. 2015 Feb 26;4:53. doi: 10.12688/f1000research.6160.1. eCollection 2015.
This brief review of current research progress on Charcot-Marie-Tooth (CMT) disease is a summary of discussions initiated at the Hereditary Neuropathy Foundation (HNF) scientific advisory board meeting on November 7, 2014. It covers recent published and unpublished in vitro and in vivo research. We discuss recent promising preclinical work for CMT1A, the development of new biomarkers, the characterization of different animal models, and the analysis of the frequency of gene mutations in patients with CMT. We also describe how progress in related fields may benefit CMT therapeutic development, including the potential of gene therapy and stem cell research. We also discuss the potential to assess and improve the quality of life of CMT patients. This summary of CMT research identifies some of the gaps which may have an impact on upcoming clinical trials. We provide some priorities for CMT research and areas which HNF can support. The goal of this review is to inform the scientific community about ongoing research and to avoid unnecessary overlap, while also highlighting areas ripe for further investigation. The general collaborative approach we have taken may be useful for other rare neurological diseases.
这篇关于夏科-马里-图斯（CMT）病当前研究进展的简要综述，是对2014年11月7日遗传性神经病变基金会（HNF）科学顾问委员会会议上所发起讨论的总结。它涵盖了近期已发表和未发表的体外及体内研究。我们讨论了CMT1A近期有前景的临床前研究工作、新生物标志物的开发、不同动物模型的特征以及CMT患者基因突变频率的分析。我们还描述了相关领域的进展如何可能有益于CMT治疗的发展，包括基因治疗和干细胞研究的潜力。我们也讨论了评估和改善CMT患者生活质量的可能性。这份CMT研究综述指出了一些可能会对即将开展的临床试验产生影响的差距。我们提供了CMT研究的一些优先事项以及HNF能够提供支持的领域。这篇综述的目的是向科学界通报正在进行的研究情况，避免不必要的重复，同时突出有待进一步研究的成熟领域。我们所采用的总体协作方法可能对其他罕见神经疾病有用。
