Creating a Medical and Research Database for HGPS

点击翻译按钮获取中文摘要

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.