Research in Congenital Muscle Disease

先天性肌肉疾病的研究

• 批准号: 8735589
• 负责人: Katherine Meilleur
• 金额: $ 7.55万
• 依托单位: NATIONAL INSTITUTE OF NURSING RESEARCH
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8735589
• 关键词: Activities of Daily Living; Adverse effects; Affect; Amendment; Articular Range of Motion; Bibliography; Biological; Brain; Calibration; Caregivers; Cerebral Palsy; Cessation of life; Charge; Child; Childhood; Clinic; Clinical; Clinical Investigator; Clinical Research; Clinical Trials; Clinical Trials Design; Collagen Type VI; Contracture; Country; Data; Data Analyses; Data Storage and Retrieval; Development; Disease; Disease Progression; Family; Fatigue; Floor; Generic Drugs; Genes; Genetic; Goals; Heel; Impairment; Injury; Institutional Review Boards; International; Joints; Journals; Laminin; Left; Logistics; Longitudinal Studies; Magnetic Resonance Imaging; Manuscripts; Measurement; Measures; Medical Research; Merosin; Molecular; Motor; Movement; Muscle; Muscle Weakness; Muscular Dystrophies; Mutation; Myopathy; National Institute of Neurological Disorders and Stroke; Neuromuscular Diseases; Neuromuscular Manifestations; Nursing Research; Outcome; Outcome Assessment; Outcome Measure; Paper; Paralysed; Passive Range of Motion function; Patient Recruitments; Patients; Peer Review; Performance; Peripheral Nervous System; Persons; Pilot Projects; Play; Process; Protocols documentation; Proxy; Publishing; Quality of life; Questionnaires; Rare Diseases; Reporting; Research; Research Personnel; Respiratory Insufficiency; Role; Severities; Societies; Steroids; Supine Position; Symptoms; Testing; Time; Tissues; Translating; Ultrasonography; United States National Institutes of Health; Validation; Validity and Reliability; Vital capacity; Walking; base; burden of illness; cohort; congenital muscular dystrophy; disorder subtype; drug efficacy; functional disability; health related quality of life; interest; meetings; member; motor impairment; neurogenetics; neuromuscular; posters; programs; receptor; research clinical testing; respiratory; scoliosis; success; symposium; tool

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.

我于2012年9月开始担任NINR组织损伤分支的助理临床研究者。 在过去的一年里，我有两个方案被NINR科学审查程序接受。第一项研究是在患有神经肌肉疾病的幼儿中开发第一个代理运动结果评估。 该研究最近获得IRB的初步审查批准，标题为方案T-NR-0643，神经肌肉疾病幼儿代理运动结局指标的开发。 标题为“脑瘫和先天性肌营养不良症患者PROMIS和Neuro-QOL问卷的校准和验证”的第二个方案已获得IRB批准，作为现有NINDS方案的修正案。 我是上述NINDS方案的副研究员，该方案题为儿童神经肌肉和神经遗传性疾病的临床和分子表现。 作为后一个协议的一部分，我从NINDS开始了一个为期5年的项目，去年9月离开NINDS并开始与NINR合作。该项目是一项为期5年的研究，对两种亚型的先天性肌营养不良症（胶原VI相关性肌病和层粘连蛋白2相关性肌营养不良症）的临床结果进行测量。 2013年7月，我与我最近聘请的研究团队，一名postbac研究员和一名研究护士一起组织了这项研究的第四年。 该研究在2013年7月中旬的4天内将35名患者带到临床中心，其中患者接受了包括运动功能量表和定时测试、肌肉和大脑MRI、肌肉超声和生活质量问卷在内的测试。 我负责这个大型项目的后勤、患者招募、数据存储和分析，该项目涉及来自全国各地的约30名临床医生和研究人员。 目前正在撰写一份手稿，总结这项5年纵向研究的前两年试点研究。 我最近还向《脑》杂志提交了一篇关于另一种先天性肌营养不良症亚型的临床、遗传和神经病理学谱的论文，该亚型是由基因LARGE突变引起的肌营养不良症。 此外，在过去的一个财政年度里，我与人合著了4篇手稿，这些手稿已在同行评审期刊上发表（见参考书目）。 在7月的临床研究之后，我组织了一个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。 我促进并提出了在2013年治愈先天性肌肉疾病（治愈CMD）研究研讨会今年夏天在美国国立卫生研究院校园举行。两年一度的会议面向受影响的人，受影响儿童的家庭，临床医生和研究人员，今年由NINR共同主办。 来自世界各地的150多名与会者来到NIH参加会议。除了协助为会议提供便利外，我还提交了两张海报。 第一份报告来自胶原VI相关肌病和层粘连蛋白2相关肌营养不良临床结局指标的五年纵向研究的初步结果，重点关注其可行性、有效性和可靠性。第二项评估了两种疾病亚型从坐位到仰卧位的用力肺活量变化。我还在2012年10月的世界肌肉协会会议上展示了几张海报，这是专注于肌肉疾病的首要国际和跨学科协会。 最后，我在过去的一年里雇佣了我的研究团队的两名成员，因为这是我在NINR的第一年。