Bioresources Core: Resources for FSHD research and clinical trials

生物资源核心：FSHD 研究和临床试验的资源

• 批准号: 9767870
• 负责人: RABI TAWIL
• 金额: $ 27.01万
• 依托单位: FRED HUTCHINSON CANCER RESEARCH CENTER
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至 2021-09-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9767870
• 关键词: Biocompatible Materials; Biological; Biological Markers; Biopsy; Biopsy Specimen; Blood; Cell Line; Clinical; Clinical Trials; Consensus; Coupled; D4Z4; DNA; DNA Methylation; Data; Development; Disease; Early Diagnosis; Epigenetic Process; Facioscapulohumeral Muscular Dystrophy; Fibroblasts; Freezing; Functional disorder; Future; Generations; Genes; Genetic; Genotype; Goals; Histologic; Mediating; Methylation; Molecular; Muscle; Myoblasts; Needle biopsy procedure; Outcome Measure; Paper; Pathogenesis; Pathologic; Patients; Positioning Attribute; Process; Publishing; RNA; Readiness; Repression; Research; Resources; Sampling; Serum; Serum Proteins; Severities; Severity of illness; Signal Transduction; Skin; Source; Testing; Time; Tissues; Validation; Work; early phase trial; functional outcomes; novel; patient stratification; potential biomarker; recruit; screening; targeted treatment; therapeutic biomarker; therapeutic development; tool development

BIORESOURCES CORE: Resources for FSHD research and clinical trials Abstract Access to well characterized patient biological samples was critical for the recent advances in our understanding of the underlying disease mechanisms in FSHD. The continued availability of these finite resources remains critical for the current scientific projects 1-3. Moreover, as clinical trials in FSHD in the near future become a reality, the need for relevant outcome measures becomes a priority. The major aims of the Scientific Core are to provide the scientific projects with the necessary, clinically and genotypically well characterized biological resource, and to work in parallel with the scientific projects on clinical trial preparedness. The specific aims of the Scientific Core accomplish these goals by: Aim1 generating the necessary tissue and cell lines from subjects with FSHD1, FSHD2 and normal controls; Aim 2, generating a large set of FSHD and control sera and investigating identified DUX4 targets in muscle tissue for potential biomarkers as well as test and validate promising clinical outcome measures. Together, these aims will not only provide the necessary biological resources to meet the needs of all three PO1 scientific projects, but will also assist in the development of the tools necessary for the conduct of future clinical trials in FSHD. 1

BIORESOURCES CORE：FSHD研究和临床试验资源 摘要 获得良好表征的患者生物样本对于我们的最新进展至关重要。 了解FSHD的潜在疾病机制。继续提供这些 有限的资源对于目前的科学项目1-3仍然至关重要。此外，作为临床试验， FSHD在不久的将来成为现实，需要相关的结果措施成为一个优先事项。 科学核心的主要目标是为科学项目提供必要的， 临床和基因型特征良好的生物资源，并与 关于临床试验准备的科学项目。科学核心的具体目标是实现 这些目标是：目的1从患有FSHD 1、FSHD 2的受试者中产生必要的组织和细胞系 目的2，产生大量的FSHD和对照血清，并研究 在肌肉组织中确定DUX 4靶点作为潜在的生物标志物，并测试和验证有希望的 临床结果测量。总之，这些目标将不仅提供必要的生物学 资源，以满足所有三个PO 1科学项目的需要，但也将协助发展 未来在FSHD中进行临床试验所需的工具。 1