Comp A-MD and Neuromuscular Disorder Surveillance and Research in Iowa

爱荷华州的 Comp A-MD 和神经肌肉疾病监测和研究

• 批准号: 8915516
• 负责人: Paul A Romitti
• 金额: $ 47万
• 依托单位: UNIVERSITY OF IOWA
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-09-01 至 2019-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8915516
• 关键词: Comp; MD; Neuromuscular; Disorder; Surveillance

DESCRIPTION (provided by applicant): The Muscular Dystrophy surveillance, racking, and Research Network (MD STARnet) was established in 2002 to conduct population-based surveillance and long-term follow-up of cases with Duchenne and Becker muscular dystrophies (DBMD); longitudinal surveillance for DBMD has been ongoing since 2004. In 2011, the MD STARnet was expanded to include cross- sectional surveillance for seven additional MDs (congenital, distal, Emery-Dreifuss, facioscapulohumeral, limb-girdle, myotonic, and oculopharyngeal). Our Iowa Site was one of four charter awardees for the MD STARnet in 2002 and was refunded in 2006 and 2011. As an MD STARnet site, we have successfully integrated clinical, programmatic, and referral resources provided by key partners in Iowa, such as the Iowa Neuromuscular Program, with the active, population-based resources of the Iowa Registry for Congenital and Inherited Disorders to conduct longitudinal surveillance of DBMD and cross-sectional surveillance for the additional MDs. Also, our partnership with the Reproductive Molecular Epidemiology Research and Education Program at The University of Iowa has provided experienced investigators to conduct data analyses and publish MD STARnet data. Overall, our infrastructure in Iowa now serves to advance knowledge about the prevalence of MD, clinical care for and co-morbidities diagnosed among MD cases, and the influence of family characteristics and social support on clinical outcomes. We propose to use our highly skilled and successful team to expand surveillance and research activities for MDs and to include additional, selected neuromuscular diseases (NMDs), specifically congenital myopathies, spinal muscle atrophy, Pompe disease and Charcot-Marie- Tooth disease. To accomplish this, we aim to: 1) build new and maintain existing relationships with MD and other NMD partners to enhance and promote surveillance efforts; 2) conduct longitudinal, population-based surveillance and research for all MDs by reviewing medical records and accessing administrative data; 3) pilot longitudinal surveillance for additional, selected NMDs; 4) develop and implement a communications plan to disseminate surveillance and research results to partners, patients, and policy makers to improve access to services and care; and 5) collaborate with CDC and other grantees to develop and implement an evaluation plan for the multi-site surveillance system. Using our proposed, population-based approach, we can gain increased insights into the epidemiology of MD and these additional NMDs and their complications. The data collected can also aid in providing treatment and support options beneficial to affected individuals and their families.

描述（由申请人提供）：2002年成立了肌肉营养不良监测，货架和研究网络（MD Starnet），以对Duchenne和Becker肌肉发达症（DBMD）进行基于人群的监视和长期随访；自2004年以来，DBMD的纵向监视一直在进行。2011年，MD Starnet扩大了，包括另外七个MDS（先天性，远端，Emery-Dreifuss，facioscapulohumeral，facioscapulohumeral，limb-girdle，myotonic，myotonic和oculopharyngeal）的横断面监视。我们的爱荷华州网站是2002年MD Starnet的四名租赁获奖者之一，并于2006年和2011年退款。作为MD Starnet网站，我们已经成功地整合了爱荷华州主要合作伙伴提供的临床，程序化和推荐资源，例如爱荷华州Neuromuscular Program，例如具有积极的基于IOWA的资源，并持续了Iowa Acniential of IOWA CONCORIDIAL，IOWA CONCORIDIAL，IOWA CONCORIDIAL EAWAINISERINES，并属于IOWA的行为。额外MDS的DBMD和横截面监视。此外，我们与爱荷华大学生殖分子流行病学研究和教育计划的合作伙伴关系提供了经验丰富的研究人员来进行数据分析并发布MD Starnet数据。总体而言，我们在爱荷华州的基础设施现在旨在提高有关MD的患病率，对MD病例诊断的临床护理和合并症的知识，以及家庭特征和社会支持对临床结果的影响。我们建议使用高技能和成功的团队扩大MDS的监视和研究活动，并包括其他选择的神经肌肉疾病（NMDS），特别是先天性肌病，脊柱肌肉萎缩，蓬松疾病和charcot-Marie-Marie-Marie-Marie-牙齿疾病。为此，我们的目标是：1）建立新的并保持与MD和其他NMD合作伙伴的现有关系，以增强和促进监视工作； 2）通过审查医疗记录并访问管理数据，对所有MD进行纵向，基于人群的监视和研究； 3）针对其他选定的NMD的纵向监视； 4）制定并实施一项通信计划，以向合作伙伴，患者和政策制定者传播监视和研究结果，以改善获得服务和护理的机会； 5）与CDC和其他受赠人合作，为多站点监视系统制定和实施评估计划。使用我们提出的基于人群的方法，我们可以增加对MD流行病学以及这些额外NMD及其并发症的见解。收集的数据还可以帮助提供治疗和支持对受影响的个人及其家人有益的选择。