Research in Congenital Muscle Disease

2012年9月，我开始在NINR组织损伤分部担任助理临床研究员。在过去的一年里，我已经有两项协议被NINR科学审查程序接受。第一项是一项研究，旨在开发患有神经肌肉疾病的幼儿的第一个替代运动结果评估。它最近被IRB的初步审查批准，名为T-NR-0643协议，开发神经肌肉疾病幼儿的替代运动结果测量。第二个方案题为脑性瘫痪和先天性肌营养不良的PROMIS和Neuro-QOL问卷的校准和验证，已被IRB批准为现有NINDS方案的修正案。 我是上述NINDS方案的副研究员，题为儿童神经肌肉和神经遗传学疾病的临床和分子表现。作为后一种方案的一部分，当我去年9月离开NINDS并开始在NINR工作时，我从NINDS带走了一个为期5年的项目。该项目是一项为期5年的关于先天性肌营养不良症两个亚型的临床结果衡量标准的研究，这两个亚型是与VI型胶原相关的肌病和与层粘连蛋白2相关的肌营养不良症。在刚刚过去的2013年7月，我和我最近聘用的研究团队、一名研究生和一名研究护士一起组织了这项研究的第四个年头。这项研究将35名患者带到临床中心，在2013年7月中旬的4天时间里，接受了包括运动功能量表和计时测试、肌肉和脑MRI、肌肉超声和生活质量问卷在内的测试。我负责这个涉及全国约30名临床医生和研究人员的大型项目的后勤、患者招募、数据存储和分析。总结这项5年纵向研究的头两年试点研究的手稿正在进行中。我最近还向《大脑》杂志提交了一篇关于先天性肌营养不良症的临床、遗传和神经病理图谱的论文，这是由于基因Large突变导致的甲型肌营养不良症。此外，在过去的一年里，我与人合著了4篇手稿，发表在同行评议的期刊上(见参考文献)。 在7月份的临床研究之后，我组织了一次先天性肌肉疾病会议和研究研讨会，我在其中扮演了几个角色。我主持并在今年夏天在美国国立卫生研究院校园举行的2013年治愈先天性肌肉疾病(Cure CMD)研究研讨会上发表了演讲。这次一年两次的会议是由NINR今年联合主办的，面向受影响的人、受影响儿童的家庭、临床医生和研究人员。来自世界各地的150多名与会者来到美国国立卫生研究院参加会议。除了协助推动会议外，我还赠送了两张海报。首次报道了对VI型胶原相关肌病和层粘连蛋白2相关肌营养不良症的临床结果进行的五年纵向研究的初步结果，并侧重于它们的可行性、有效性和可靠性。第二项研究评估了两种疾病亚型从坐位到仰卧位的用力肺活量的变化。我还在2012年10月的世界肌肉协会会议上展示了几张海报，这是一个主要关注肌肉疾病的国际和跨学科协会。 最后，由于这是我在NINR的第一年，我在过去的一年里雇佣了我的研究团队的两名成员。

I started as an Assistant Clinical Investigator in the Tissue Injury Branch of the NINR in September of 2012. Over the past year, I have had two protocols accepted by the NINR Scientific Review Process. The first one is a study to develop the first proxy motor outcome assessment in young children with neuromuscular disease. It was approved recently by Initial Review of the IRB and is entitled protocol T-NR-0643, Development of a Proxy Motor Outcome Measure in Young Children with Neuromuscular Disease. The second protocol entitled The Calibration and Validation of the PROMIS and Neuro-QOL questionnaires in cerebral palsy and congenital muscular dystrophy had been approved by the IRB as an amendment to an existing NINDS protocol. I am an Associate Investigator on the above mentioned NINDS protocol entitled Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood. As part of this latter protocol, I took a 5 year project with me from NINDS when left NINDS and started with NINR last September. The project is a 5 year study of clinical outcome measures in two subtypes of congenital muscular dystrophy, Collagen VI-Related Myopathy and Laminin 2 Related Muscular Dystrophy. This past July 2013, I organized the 4th year of the study with my recently hired research team, a postbac fellow and a research nurse. The study brought 35 patients to the Clinical Center over a 4 day period mid July 2013 in which the patients under went testing including motor function scales and timed tests, muscle and brain MRI, muscle ultrasound, and quality of life questionnaires. I am in charge of the logistics, patient recruitment, and data storage and analysis of this large project involving approximately 30 clinicians and researchers from across the country. A manuscript summarizing the first two year pilot study of this 5 year longitudinal study is underway. I also recently submitted a paper to the journal Brain regarding the clinical, genetic, and neuropathological spectrums of another subtype of congenital muscular dystrophy, alphadystroglycanopathy due to mutations in the gene LARGE. Additionally I have coauthored 4 manuscripts over the past fiscal year which have been published in peer reviewed journals (see Bibliography). I organized a Congenital Muscle Disease Conference and Research Symposium on the heels of the clinical study in July in which I played several roles. I facilitated and presented at the 2013 Cure Congenital Muscle Disease (Cure CMD) Research Symposium held this past summer on the NIH campus. The biannual conference, geared toward affected persons, families of affected children, clinicians and researchers, was co-hosted by NINR this year. Over 150 attendees from all over the world came to NIH to participate in the conference. In addition to assisting with the facilitation of the conference, I presented two posters. The first reported preliminary results from the five-year longitudinal study of clinical outcome measures in Collagen VI-Related Myopathy and Laminin 2-Related Muscular Dystrophy and focused on their feasibility, validity, and reliability. The second evaluated change in forced vital capacity from the sitting to supine positions for the two disease subtypes. I also presented several posters at the World Muscle Society Meeting in October of 2012, the premier international and interdisciplinary society focusing on muscle diseases. Finally, I hired both members of my research team over the past year since this was my first year at NINR.