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

描述（由申请方提供）：肌营养不良监测、追踪和研究网络（MD STARnet）成立于2002年，对杜氏和贝克肌营养不良（DBMD）病例进行基于人群的监测和长期随访;自2004年以来一直在进行DBMD的纵向监测。2011年，扩展了MD STARnet，以纳入另外7种MD（先天性、远端、Emery-Dreifuss、面肩肱、肢带、肌强直和眼咽）的横断面监测。我们的爱荷华州站点是2002年MD STARnet的四个特许奖获得者之一，并于2006年和2011年获得退款。作为MD STARnet网站，我们成功整合了爱荷华州主要合作伙伴（如爱荷华州神经肌肉项目）提供的临床、项目和转诊资源，以及爱荷华州先天性和遗传性疾病登记处的基于人群的活跃资源，以进行DBMD的纵向监测和其他MD的横断面监测。此外，我们与爱荷华州大学生殖分子流行病学研究和教育项目的合作伙伴关系为经验丰富的研究人员提供了进行数据分析和发布MD STARnet数据的机会。总的来说，我们在爱荷华州的基础设施现在有助于提高对MD患病率、MD病例中诊断的临床护理和合并症以及家庭特征和社会支持对临床结局的影响的认识。我们建议使用我们的高技能和成功的团队，以扩大监测和研究活动的MD，并包括额外的，选定的神经肌肉疾病（NMD），特别是先天性肌病，脊髓性肌萎缩症，庞贝氏症和腓骨肌萎缩症。为了实现这一目标，我们的目标是：1）与MD和其他NMD合作伙伴建立新的和保持现有的关系，以加强和促进监测工作; 2）通过审查医疗记录和访问管理数据，对所有MD进行纵向的、基于人群的监测和研究; 3）对额外的、选定的NMD进行试点纵向监测; 4）制定和实施一项传播计划，向合作伙伴、患者和决策者传播监测和研究结果，以改善获得服务和护理的机会;及5）与疾病预防控制中心及其他受资助机构合作，为多地点监察系统制定及实施评估计划。使用我们提出的以人群为基础的方法，我们可以获得更多的了解MD和这些额外的NMD及其并发症的流行病学。收集的数据还可以帮助提供有益于受影响个人及其家庭的治疗和支持选择。

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.