今年，医疗营养不良协会（MDA），，，，combined, for the first time, a clinical and scientific conference with the aim to bring together world leading experts in neuromuscular diseases (NMDs).NMDs是一种大型，稀有和毁灭性的疾病，其特征是外周神经和/或肌肉受损。

Many different topics were covered during the conference; some hot topics included gene therapies, practical implementation of new therapies, new results on currently undergoing clinical trials, DNA and RNA repeat diseases and newborn screening programs.

FDA and the new hope for neuromuscular disease

To date, treatments for NMDs have been, particularly challenging due to many shortcomings.珍妮特·伍德考克FDA药物评估与研究中心主任，概述了NMD面临的当前挑战。特别是，很难找到患者进行临床试验，缺乏关键的临床信息和疾病缓慢的进展，这可能会阻碍资金的可用性，阐明了开发新的临床方法来及时研究潜在疗法的需求。

在会议的晚些时候，FDA小组进一步讨论了这些挑战。其中，可以规模制造基因疗法为公众带来最佳利益的能力。彼得·马克斯and discussed in depth byNathalie Clementsat the conference. Furthermore, strategies to facilitate the expansion of the study population pool of patients as well as the development of “N of 1” trial are needed.

总之，在研究了更多基因疗法，细胞疗法，反义寡核苷酸（ASO）和小分子的时代；必须探索新的方法和试验设计。

Gene therapies

Gene therapy，，，，a technique designed to introduce genetic material into a cell usually delivered by a vector, was discussed at the meeting. Adeno-associated virus (AAV), the most common vectors to deliver gene therapy, are modified so they do not cause disease and are able to deliver the DNA into the cell. Compiling data presented byRobert Brown,showed that gene silencing via AAV-delivered sRNA and microRNA is feasible for at least two ALS genes. Additionally, preclinical gene therapy using allele-specific knockdown with AAV9 is feasible to treat Charcot-Marie-tooth disease presented byRobert Burgess.

CRISPR-CAS9，一种新开发的基因编辑技术，为NMD的治疗提供了新的可能性。在会议上提出的一些进步中，Gene Yeodiscussed the correction of DM1 by RNA-targeting

CRISPR基因疗法。而且，Melissa Spencerproposed a new CRISPR-Cas9 platform for the treatment ofDuchenne肌肉营养不良（（DMD) with a direct method of delivery using nanoparticles.

在会议上讨论了这些和许多其他方法，并进一步强调了基因治疗，尤其是对NMD的治疗的兴奋。

Clinical trials

临床试验是测试时的古典形式ther successful preclinical candidates can be used to treat patients. While these have been implemented in other areas of medicine and have successfully defined new therapies, clinical trials for NMDs are just at the inception. A plenary session at the conference, discussed recent clinical trials‘ results as well as novel approaches and designs.

例如，杰弗里·斯塔兰（Jeffrey Statland）presented results from the ACE-083 forFacioscapulohumeral Muscular Dystrophy（FSHD）研究，目前正在进行的II期试验。这种局部作用的肌肉治疗没有显示严重的不良事件，并且在治疗长达3个月的患者中耐受性。该试验的第二阶段结果将在夏季晚些时候发布。

有趣的是，Sabrina Paganoni讨论了针对ALS的一项新审判计划。平台试验允许以具有成本效益的方式测试不同的治疗方法，从而提供了该过程的效率，并创建了优化的试验基础设施来研究多种疗法。目前正在进行这些NMD的这些和许多其他NMD试验，这些试验为这些疾病提供了巨大的希望，并将阐明这些患者的新疗法。

新生儿筛查

In the 1960s, the concept of新生儿筛查（NBS）得益于罗伯特·古斯里（Robert Guthrie）博士的作品创造了。他开发了一个简单快速的筛选测试来检测苯酮尿症，，，，a developmental disorder, in newborn babies.罗德·豪威尔（Rod Howell），出席会议，概述了新生儿筛查的初期。While in 2001, 29 conditions were included in the newborn screening panel in the US; in 2018, 35 conditions comprised this panel including Pompe and脊柱肌肉萎缩（（SMA).

Pompe disease，讨论巴里·伯恩（Barry Byrne），，，，was the first NMD accepted as a newborn screening disease in 2015. While Pompe disease has many genetic variants (500 genetic variants identified so far) and presents a varied disease spectrum, there are currently different therapy strategies available that made possible the addition of this disease to the NBS panel and its implementation.

此外，理查德·芬克尔讨论了当前的SMA新生儿筛查状态，该州于2018年推荐，目前在美国的试点实施期限。可以诊断出SMA具有高灵敏度和特异性，并且以非常低的假阳性速率进行简单的QPCR。有趣的是，西班牙和英国等其他国家已将SMA作为NBS疾病实施。

However, the case for DMD is different – presented by Peter Kyriacopoulos. DMD is not accepted as a NBS disease as no genetic screening is currently available due to the variability of the mutations. In addition, CK levels are difficult to interpret in newborns, genetic discrimination might occur and the perceptions of the child to be vulnerable or ill prior to the onset of any major symptoms are some of the risks for early diagnosis of DMD.

这次非凡的会议将来自多个学科的领导者专家结合在一起，以提高我们对这些毁灭性疾病的了解和理解。科学和临床课程的结合提供了我们治疗和为患有NMD的患者提供更好生活质量的进展的概述和最新的最新。

BMC Medicineis seeking submissions for a new article collection: “New frontiers in diagnosis, treatment and management of neuromuscular disorder”客人编辑布拉德利·特纳博士。我们邀请手稿和前物质内容，以研究发病机理和治疗，临床试验，诊断和筛查计划以及NMD的临床护理和管理的转化模型。