Core E: Clinical and Translational Core

摘要-临床和翻译核心(核心E) 尽管最近在表征疾病进展途径方面取得了重大进展 ADPKD，这种疾病的管理和治疗在很大程度上仍然是支持性的，没有得到证实的疾病- 修改干预措施。显然需要更多的临床和转化性研究来确定 前景看好的新疗法。此类调查面临的重大挑战包括资源有限、资源有限 获得足够数量的特征良好的ADPKD患者，不完全的人类特征 ADPKD患者的肾组织，缺乏用于量化患者症状的敏感工具，以及 临床研究设计方面的专业知识不足。巴尔的摩PKD中心临床和翻译核心 已经为这些调查建立了坚实的关键资源基础，并开始传播这些 将资源分配给现役调查人员。在我们的下一阶段，我们建议推广和扩大这些资源 通过： 1)250份重复生物信息库标本的纵向收集及临床措施 ADPKD的参与者，包括肾和肝总体积、肾功能和急性 ADPKD并发症。 2)在40例患者中建立了一种新的ADPKD肾脏组织库 肾切除和肾移植对照供体肾切除组织。 3)开发一个基于网络的疾病登记系统，以便纳入临床试验和队列研究。 4)开发和测试一种新的移动健康信息学工具，以前瞻性地收集患者- 在“真实世界”的环境中报告结果。 5)为ADPKD调查人员开发有组织的咨询服务，以设计临床和 人体受试者保护的观察性试验和方法。 这些资源将在强大的内部和外部临床用户群中传播 和翻译调查员。有了这些目标，马里兰大学临床和研究中心的支持 翻译科学研究所(CTSI)并与行政核心和其他机构密切合作 科学核心、临床和翻译核心将提供资源和专业知识 在整个大西洋中部地区和全国加强ADPKD的临床和转化性研究。

Abstract – Clinical and Translational Core (Core E) Despite recent significant and important advances in characterizing pathways of disease progression in ADPKD, the management and treatment of the disease remains largely supportive, without proven disease- modifying interventions. Additional clinical and translational investigations are clearly needed to identify promising new therapies. Significant challenges to such investigations include limited resources, limited access to sufficient numbers of well-characterized patients with ADPKD, incomplete characterization of human kidney tissue from ADPKD patients, lack of sensitive instruments for quantifying patient symptoms, and insufficient expertise in clinical study design. The Baltimore PKD Center Clinical and Translational Core has established a strong foundation of key resources for these investigations and begun to disseminate these resources to active investigators. In our next phase, we propose to promote and expand these resources through: 1) the longitudinal collection of repeated biorepository specimens and clinical measures among 250 participants with ADPKD, including total kidney and liver volume, renal function, and occurrence of acute ADPKD complications. 2) the creation of a novel human tissue bank of ADPKD kidneys among 40 patients receiving simultaneous nephrectomy and renal transplantation and control donor nephrectomy tissue. 3) the development of a web-based disease registry for recruitment into clinical trials and cohort studies. 4) the development and testing of a novel mobile health-informatics tool to prospectively collect patient- reported outcomes in a “real-world” setting. 5) Development of a structured consultation service for ADPKD investigators on the design of clinical and observational trials and methods of human subjects protection. These resources will be disseminated among a robust user base of accomplished internal and external clinical and translational investigators. With these Aims, the support of the University of Maryland Clinical and Translational Science Institute (CTSI) and in close collaboration with the Administrative Core and the other Scientific Cores, the Clinical and Translational Core will provide the resources and expertise to greatly enhance clinical and translational research in ADPKD throughout the Mid-Atlantic region and nationally.