TRANSLATIONAL RESEARCH IN THE DYSTROPHINOPATHIES

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。建立一个关于临床诊断为肌营养不良症的大队列患者的信息登记和数据库，包括：肌营养不良基因突变；可靠的表型信息，前瞻性和纵向收集；病程、治疗和反应的历史资料；个别家属的联络资料，以及家属是否希望获通知有关病人有资格参加的临床试验；肌营养不良蛋白在患者肌肉中的表达信息对有携带肌营养不良蛋白基因突变风险且年龄在18岁及以上且无症状的女性亲属提供携带者检测；年龄小于18岁且有症状，确认症状为明显的带菌者状态；向患者和携带者家属提供基因突变情况的咨询；建立一个抗肌营养不良蛋白基因多态性和突变的数据库，包括多态性的频率，供全世界的研究人员使用。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. To develop a registry of and database of information regarding a large cohort of patients with clinically-diagnosed dystrophinopathies to include: dystrophingene mutation; reliable phenotypic information, gathered prospectively and longitudinally; historical data on disease course, treatment, and response; contact information for individual families, and their response as to whether or not the family wishes to be notified of clinical trials for which the patient is eligible; information on dystrophin protein expression in muscle from patients; to provide carrier testing to female relatives who are at risk of carrying a dystrophin gene mutation and are age 18 and greater who are asymptomatic; younger than age 18 and symptomatic, to confirm the symptoms as representing a manifesting carrier state; to provide genetic counseling to families of patients and carriers regarding their mutation status; to establish a database of dystrophin gene polymorphisms and mutations, including frequencies of polymorphisms, accessible to researchers worldwide.