MD STARnet: Feasibility of Expansion to other Muscular Dystrophies

描述（由申请人提供）：肌肉萎缩症是一组遗传性致残疾病，无法治愈，只能治疗症状。肌肉萎缩症的类型在临床上由发病的年龄和肌肉群受累的模式来区分。在儿童中，最常见的类型是杜氏肌营养不良症和贝克尔肌营养不良症（DBMD），这是一种x连锁的等位基因疾病，据报道，每3500名男婴中就有一人患有这种疾病。肌萎缩症监测、跟踪和研究网络（MD STARnet）最初的建立是为了进行基于人群的DBMD的确定和患病率估计，以及记录早期体征和症状、接受的治疗类型以及影响这些疾病患者预后的因素。2002年，爱荷华州先天性和遗传性疾病登记处（IRCID）成为MD STARnet的四个特许获奖者之一，并于2006年成功退款。作为MD STARnet站点，我们成功地将爱荷华州相关利益相关者提供的临床、规划和转诊资源与IRCID的资源整合在一起，建立了全州范围内的DBMD监测基础设施，并对DBMD患者及其家人进行了长期随访。MD STARnet创建的基础设施现在可以促进对受其他类型MD影响的个人和家庭的患病率、人口统计、医疗保健覆盖范围和临床护理的了解。对于当前的项目，IRCID建议与现有利益相关者合作，并与新的利益相关者建立伙伴关系，以成功地继续作为MD STARnet参与站点：1)继续开展基于人群的DBMD监测和研究；2)设计并实施以人群为基础的7种其他肌肉营养不良症（先天性、远端、埃莫里-德莱弗斯、面肩肱、肢带、肌强直性和眼咽）的监测；3)评估对所有肌肉萎缩症进行基于人群的监测的方法；4)分析数据，发表文章，并使用收集的杜氏肌营养不良症的信息传播报告。使用MD STARnet的基于人群的方法，我们可以增加对这些额外MD及其并发症的流行病学的了解。收集到的信息还有助于为患有这些额外MDs的个人提供有益的治疗和支持选择，并确定这些个人及其家庭的独特需求。

DESCRIPTION (provided by the applicant): The muscular dystrophies are a group of inherited, disabling diseases for which there are no cures, only treatment of symptoms. Types of muscular dystrophy are distinguished clinically by age at onset and pattern of muscle group involvement. Among children, the most common types are Duchenne and Becker muscular dystrophies (DBMD), X-linked allelic disorders commonly reported to affect one in 3,500 male births. The Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) was originally established to conduct population-based ascertainment and prevalence estimation for DBMD, as well as document early signs and symptoms, types of care received, and factors affecting outcomes of individuals with these disorders. In 2002, the Iowa Registry for Congenital and Inherited Disorders (IRCID) was one of four charter awardees for the MD STARnet and was successfully refunded in 2006. As an MD STARnet site, we have successfully integrated clinical, programmatic, and referral resources provided by relevant stakeholders in Iowa with the resources of the IRCID to establish a statewide infrastructure for DBMD surveillance and to implement long-term follow-up of individuals with DBMD and their families. The infrastructure created by the MD STARnet can now serve to advance knowledge about the prevalence, demographics, health care coverage, and clinical care received by individuals and families affected by other types of MD. For the current project, the IRCID proposes to engage existing stakeholders and establish partnerships with new stakeholders to successfully continue as a participating MD STARnet site to: 1) continue to conduct population-based surveillance and research for DBMD; 2) design and implement population-based surveillance for seven additional muscular dystrophies (congenital, distal, Emery-Dreifuss, facioscapulohumeral, limb-girdle, myotonic, and oculopharyngeal); 3) assess the methodology for conducting population-based surveillance for all muscular dystrophies; and 4) analyze data, publish articles, and disseminate reports using information collected for Duchenne Becker muscular dystrophies. Using the population-based approach of the MD STARnet, we can gain increased understanding of the epidemiology of these additional MDs and their complications. The information collected can also aid in providing treatment and support options beneficial to individuals with these additional MDs as well as identify unique needs of these individuals and their families. PUBLIC HEALTH RELEVANCE: The Iowa site of the Muscular Dystrophy Surveillance, Tracking, and Research Network will continue its leadership role in surveillance and research for Duchenne and Becker muscular dystrophies and expand its surveillance activities to include congenital, distal, Emery-Dreifuss, facioscapulohumeral, limb-girdle, myotonic, and oculopharyngeal muscular dystrophies. Information collected can aid in providing treatment and support options and identifying unique needs of individuals with these muscular dystrophies and their families. Findings will be shared with scientists and professionals developing interventions and patient resources.