Creating a Medical and Research Database for HGPS

描述(由申请人提供)：早衰症研究基金会(PRF)将建立一个国际Hutchinson-Gilford早衰症(HGPS)医学和研究数据库，目的是获得关于HGPS儿童的长期详细的临床、流行病学和实验室数据。HGPS是一种罕见且一致致命的“早衰综合征”，儿童在平均13岁时死于动脉粥样硬化性心脏病。目前，几乎没有关于HGPS儿童的临床信息。PRF是唯一专门从事HGPS医学研究的组织。PRF正在与布朗大学老年学和卫生保健研究中心合作，该中心是一个成熟的数据和研究中心，在设计数据库和数据收集协议方面。在专家科学咨询委员会的投入和审查下，该中心的临床护士专家，他们在病历提取方面拥有专业知识，将对项目中获得的记录实施这一方案。非营利组织恩格尔霍恩罕见疾病基金会(Efford)将作为数据库储存库。在提取记录并对10名儿童的数据进行编码后，将开始数据分析。分析结果和其他反馈将通过PRF和Efford网站、信息表和出版物提供给家庭、医生和研究人员。拟议的数据库将帮助卫生保健专业人员为患有HGP的儿童提供适当的护理，并将更好地了解HGPS表型的变化。该项目将有可能汇编关于这种罕见疾病儿童的全面、深入的数据，这将成为了解这种疾病的基础的宝贵工具，并反过来可能导致其诊断和治疗的改进。这将为HGPS以及与HGPS相关的老年性疾病(如动脉粥样硬化)的新研究提供资源。

DESCRIPTION (provided by applicant): The Progeria Research Foundation(PRF) will establish an International Hutchinson-Gilford Progeria Syndrome (HGPS) Medical and Research Database for the purpose of obtaining long-term detailed clinical epidemiological and laboratory data on children with HGPS. HGPS is a rare and uniformly fatal "premature aging syndrome" in which children die of atherosclerotic heart disease at an average age of 13 years. Presently there is little clinical information available on children with HGPS. PRF is the only organization solely dedicated to medical research on HGPS. PRF is collaborating with the Brown University Center for Gerontology and Health Care Research, a well-established data and research center, in designing the database and the data collection protocol. With input and review by an expert scientific advisory committee, the Center's clinical nurse specialists, who have expertise in medical record abstraction, will implement this protocol for the records obtained in the project. The Engelhorn Foundation for Rare Diseases (EFFORD), a non-profit organization, will serve as the database repository. Data analysis will commence when records have been abstracted and data have been coded for 10 children. Results of analyses and other feedback will be provided to families, physicians and researchers through the PRF and EFFORD websites, information sheets, and publications. The proposed database will assist health care professionals in providing appropriate care for children with HGPS and will provide a better understanding of the variations in phenotype of HGPS. This project will make it possible to compile comprehensive in-depth data on the children with this rare disorder, which will serve as a valuable tool in understanding the basis of this disease, and in turn may lead to improvements in its diagnosis and treatment. It will provide a resource for new research in HGPS and in the aging diseases associated with HGPS such as atherosclerosis.