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 摘要 获得具有良好特征的患者生物样本是我们最近取得进展的关键 了解FSHD的潜在疾病机制。这些产品的持续供应 对于当前的科学项目1-3来说，有限的资源仍然至关重要。此外，随着临床试验在 如果FSHD在不久的将来成为现实，相关成果措施的必要性就成为一项优先事项。 科学核心的主要目标是为科学项目提供必要的， 临床和基因特征良好的生物资源，并与 关于临床试验准备的科学项目。实现科学核心的具体目标 这些目标是：Aim1从患有FSHD1、FSHD2的受试者中产生必要的组织和细胞系 和正常对照组；目标2，生成大量FSHD和对照血清并研究 确定肌肉组织中潜在生物标志物的DUX4靶点以及测试和验证有前景的 临床结果测量。总而言之，这些目标不仅将提供必要的生物 资源，以满足所有三个PO1科学项目的需要，但也将协助发展 未来进行FSHD临床试验所需的工具。 1

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