Surveillance and Epidemiologic Research of Duchenne and Becker Muscular Dystrophy

杜氏肌营养不良症和贝克尔肌营养不良症的监测和流行病学研究

• 批准号: 7283077
• 负责人: Paul A Romitti
• 金额: $ 79.91万
• 依托单位: UNIVERSITY OF IOWA
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-09-01 至 2011-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7283077
• 关键词: Surveillance; Epidemiologic; Research; Duchenne; Becker

DESCRIPTION (provided by applicant): Duchenne/Becker muscular dystrophy (DBMD) represents a spectrum of X-linked disorders that result from mutations in the dystrophin gene. Due to the large size of this gene, there is a high new mutation rate making eradication of DBMD unlikely. Comprehensive, population-based surveillance along with long-term follow-up of individuals with DBMD is needed to characterize the occurrence of this disorder and its complications and to evaluate methods of delivery of health care, specific medical and surgical interventions and psychosocial impact for affected individuals and their families. In 2002, the Iowa Registry for Congenital and Inherited Disorders (IRCID) was one of four charter awardees for the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet). As an MD STARnet site, we 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. We also conducted a needs assessment among Iowa families to better understand the impact DBMD has on individuals and their families and to identify gaps in resources and barriers to accessing resources. In addition, we established and maintained the MD STARnet Data Coordination Center (DCC) for the Centers for Disease Control and Prevention (CDC) and participating sites. For the current agreement, we propose to successfully continue as an MD STARnet site and the MD STARnet DCC to: 1) generate population-based prevalence and incidence rates for DBMD in the United States with particular attention to differences in rates over time and by race/ethnicity; 2) identify the early signs and symptoms of DBMD to facilitate early diagnosis; 3) describe the medical and social services received and quality of life of families of patients with DBMD and whether these vary by race/ethnicity and socioeconomic status; and 4) investigate factors that may impact the severity or course of DBMD including medical management and genetic and environmental factors. Using this population-based approach, we will gain increased understanding of the epidemiology of this disorder and its complications, which will allow for development of improved guidelines for care for individuals with DBMD.

描述（由申请人提供）：杜氏/贝克肌营养不良症（DBMD）代表一系列由肌营养不良蛋白基因突变引起的X连锁疾病。由于该基因的大尺寸，存在高的新突变率，使得DBMD不太可能被根除。需要对DBMD患者进行全面的、基于人群的监测沿着长期随访，以描述这种疾病及其并发症的发生，并评估提供医疗保健的方法、特定的医疗和外科干预以及对受影响的个人及其家庭的心理社会影响。2002年，爱荷华州先天性和遗传性疾病登记处（IRCID）是肌营养不良监测、跟踪和研究网络（MD STARnet）的四个特许获奖者之一。作为MD STARnet网站，我们成功地将爱荷华州相关利益相关者提供的临床、项目和转诊资源与IRCID的资源相结合，建立了全州范围的DBMD监测基础设施，并对DBMD患者及其家人进行长期随访。我们还在爱荷华州家庭中进行了需求评估，以更好地了解DBMD对个人及其家庭的影响，并确定资源缺口和获取资源的障碍。此外，我们还为疾病控制和预防中心（CDC）和参与研究中心建立并维护了MD STARnet数据协调中心（DCC）。对于目前的协议，我们建议继续成功地作为MD STARnet研究中心和MD STARnet DCC：1）生成美国DBMD基于人群的患病率和发病率，特别注意随时间推移和种族/种族的发病率差异; 2）识别DBMD的早期体征和症状，以促进早期诊断; 3）描述接受的医疗和社会服务以及DBMD患者家属的生活质量，以及这些是否因种族/民族和社会经济地位而异;以及4）调查可能影响DBMD严重程度或病程的因素，包括医疗管理以及遗传和环境因素。使用这种以人群为基础的方法，我们将获得更多的了解这种疾病的流行病学及其并发症，这将允许制定更好的指导方针，为DBMD患者提供护理。