Core--Muscle Biopsy/Cell Culture/ Diagnostics

核心--肌肉活检/细胞培养/诊断

基本信息

批准号：
7799718
负责人：
STEVEN A MOORE
金额：
$ 24.96万
依托单位：
UNIVERSITY OF IOWA
依托单位国家：
美国
项目类别：
财政年份：
资助国家：
美国
起止时间：
至
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/7799718
关键词：
Autopsy Basic Science Becker Muscular Dystrophy Biopsy Cardiac Myocytes Cell Culture Techniques Cell Line Cells Clinical Clinical Research Clinical Trials Collaborations Conduct Clinical Trials Confidentiality of Patient Information Consent Development Diagnosis Diagnostic Diagnostic Services Diagnostic tests Evaluation Fee-for-Service Plans Fibroblasts Foundations Functional disorder Genotype Goals Heart Iowa Laboratories Licensing Limb-Girdle Muscular Dystrophies Link Molecular Diagnosis Muscle Muscular Dystrophies Myoblasts Myocardium Ohio Online Systems Operative Surgical Procedures Pathology Patients Physicians Procedures Protocols documentation Quality Control Recruitment Activity Research Research Activity Research Infrastructure Research Personnel Resources Sampling Services Skeletal Muscle Skin Source Specimen Testing Therapeutic Tissues Universities base congenital muscular dystrophy interest meetings novel diagnostics post intervention repository research and development tissue/cell culture

项目摘要

The Muscle Tissue/Cell Culture/Diagnostics Core for this Wellstone Muscular Dystrophy Cooperative Research Center is a multifaceted laboratory that will be both a local and a national resource for muscular dystrophy research. There are two major goals of the Core. First, the Core will use approximately 4000 existing stored skeletal muscle biopsies to establish a muscle tissue repository. Among the existing muscle biopsies are more than 600 muscular dystrophy samples that include dystrophinopathies (Duchenne and Becker muscular dystrophy), limb-girdle muscular dystrophies, and congenital muscular dystrophies. We will accrue new specimens into the Core from a variety of sources: diagnostic muscle biopsies, therapeutic surgical procedures, endomyocardial biopsies, heart explants, skin biopsies, and autopsies. In addition to these tissues, we will establish fibroblast and myoblast cell lines from diagnostic muscle and skin biopsies. Patients with genetically defined muscular dystrophies will be recruited to undergo biopsies in order to maintain a widely representative spectrum of muscular dystrophy diagnoses. Well characterized tissues and cells from the Core will be made available to research investigators from other centers. The second goal of the Core is to establish a diagnostic resource. In this capacity it will provide diagnostic services that are not readily available through clinical laboratories, it will facilitate development of new diagnostic tests for transfer to the clinical laboratory, and will serve as a post-intervention biopsy evaluation resource for investigators conducting clinical trials. The Core will maintain patient confidentiality, and all testing will be quality controlled to meet CLIA licensing standards. Thus, the Muscle Tissue/Cell Culture/Diagnostics Core will establish a vital resource of muscular dystrophy tissues and cell cultures, provide a critical diagnostic link in expanding the number of patients with specific, molecular diagnoses, and serve as a national biopsy testing resource for clinical trials in muscular dystrophy patients.

该井石肌肉营养不良的合作研究中心的肌肉组织/细胞培养/诊断核心是一个多方面的实验室，既是局部和国家的肌肉营养不良研究资源。核心有两个主要目标。首先，核心将使用大约4000个现有的存储骨骼肌活检来建立肌肉组织存储库。在现有的肌肉活检中，有600多个肌肉营养不良样本，包括营养不良（Duchenne和Becker肌肉营养不良），肢体束缚肌肉营养不良和先天性肌营养不良。我们将从各种来源吸引新标本：诊断肌肉活检，治疗手术程序，内膜活检，心脏外植体，皮肤活检和尸检。此外这些组织，我们将从诊断肌肉和皮肤活检中建立成纤维细胞和成肌细胞细胞系。将招募具有遗传定义的肌肉营养不良的患者进行活检，以维持广泛代表性的肌肉营养不良诊断。来自核心的良好表征的组织和细胞将用于其他中心的研究研究人员。核心的第二个目标是建立诊断资源。以这种能力，它将提供不容易通过临床实验室获得的诊断服务，它将有助于开发新的诊断测试，以转移到临床实验室，并将作为进行临床试验的研究人员提供干预后的活检评估资源。核心将保持患者的机密性，所有测试将受到质量控制以满足CLIA许可标准。因此，肌肉组织/细胞培养/诊断核心将建立肌肉性营养不良组织和细胞培养的重要资源，在扩大具有特定分子诊断的患者数量方面提供了关键的诊断联系，并充当了肌肉性营养不良患者临床试验的国家活检测试资源。