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

描述（由申请人提供）：肌营养不良症监测、追踪和研究网络 (MD STARnet) 成立于 2002 年，旨在对杜氏肌营养不良症和贝克尔肌营养不良症 (DBMD) 病例进行基于人群的监测和长期随访；自 2004 年以来，DBMD 的纵向监测一直在进行。2011 年，MD STARnet 扩大到包括对另外 7 个 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。我们的爱荷华中心是 2002 年 MD STARnet 的四个特许获得者之一，并于 2006 年和 2011 年获得退款。作为 MD STARnet 中心，我们成功地将爱荷华州主要合作伙伴（例如爱荷华州神经肌肉计划）提供的临床、计划和转诊资源与爱荷华州先天性和遗传性疾病登记处基于人口的活跃资源整合起来，对 DBMD 和遗传性疾病进行纵向监测。对额外 MD 进行横断面监测。此外，我们与爱荷华大学生殖分子流行病学研究和教育项目的合作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致力于增进对 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果的影响的了解。我们建议利用我们高技能和成功的团队来扩大对 MD 的监测和研究活动，并将其他选定的神经肌肉疾病 (NMD) 纳入其中，特别是先天性肌病、脊髓性肌肉萎缩、庞贝病和腓骨肌萎缩症。为了实现这一目标，我们的目标是：1）与 MD 和其他 NMD 合作伙伴建立新的并维持现有的关系，以加强和促进监视工作； 2) 通过审查病历和访问管理数据，对所有医学博士进行纵向、基于人群的监测和研究； 3) 对额外的、选定的 NMD 进行试点纵向监视； 4) 制定并实施沟通计划，向合作伙伴、患者和政策制定者传播监测和研究结果，以改善获得服务和护理的机会； 5) 与 CDC 和其他受资助者合作，制定并实施多站点监测系统的评估计划。使用我们提出的基于人群的方法，我们可以更好地了解 MD 的流行病学以及这些其他 NMD 及其并发症。收集的数据还可以帮助提供对受影响的个人及其家人有益的治疗和支持选择。

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.