Prader-Willi Syndrome (PWS)

普瑞德威利综合症 (PWS)

基本信息

批准号：
8381941
负责人：
Daniel J Driscoll
金额：
$ 17.32万
依托单位：
UNIVERSITY OF ALABAMA AT BIRMINGHAM
依托单位国家：
美国
项目类别：
财政年份：
2012
资助国家：
美国
起止时间：
2012-08-01 至 2014-07-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8381941
关键词：
Academic Medical Centers Adult Age Age of Onset Angelman Syndrome Behavior Birth History California Characteristics Child Cities Clinical Clinical Research Clinical Trials Clinical Trials Data Monitoring Committees Code Collaborations Data Developmental Disabilities Diagnostic Disease Enrollment Family Florida Funding Genetic Genetic screening method Genotype Goals Grant Hospitals Impaired cognition Individual Instruction Intellectual functioning disability Kansas Letters Light Longitudinal Studies Marshal Medical Medical Research Mental Retardation and Developmental Disabilities Research Centers Molecular Morbid Obesity Natural History Neonatal Neurofibromin 2 Obesity Participant Patients Pattern Phenotype Pilot Projects Population Prader-Willi Syndrome Problem behavior Protocols documentation Rare Diseases Recruitment Activity Research Personnel Research Subjects Rett Syndrome Seizures Site Sleep Sleep Disorders Somatotropin Technology Tennessee Training Training Programs Training Support United States National Institutes of Health Universities Update Virginia Writing base early onset effective intervention effective therapy expectation hormone therapy interest meetings member novel novel diagnostics nutrition patient advocacy group symposium tool web site

项目摘要

This is a competitive renewal application from an inter-institutional group of investigators with long-standing interest in Angelman syndrome (AS), Rett syndrome (RTT), and Prader-Willi syndrome (PWS) to continue a Rare Diseases Clinical Research Center (RDCRC) within the Rare Diseases Clinical Research Network (RDCRN). The Center will focus on these three disorders based on the expectation that the near-term potential for meaningful therapy is strong. The specific aims for PWS are 1) to conduct longitudinal studies according to genotype, 2) to perform natural history studies on non-PWS individuals with early-onset morbid obesity (EMO) and compare them with PWS, and 3) to develop parameters and tool for clinical trials. A pilot project spanning the three disorders will examine the characteristics and patterns of sleep disorders, well-known accompaniments of each (funded by IRSF).The PWS sites will be at the University of Florida, University of Kansas, UC Irvine, and Vanderbilt University. The PWS RDCRC will utilize GCRCs in Gainesville, Irvine, Kansas City, and Nashville. The Center is expected to function synergistically with the Intellectual and Developmental Disability Centers-IDDRC (formerly the MRRC) at UAB, Kansas, and Vanderbilt. An extensive training program is proposed for stimulating the entry of new investigators into clinical research on rare diseases (funded by IRSF and PWSA). The Center will have active affiliation with and support from the Prader-Willi Syndrome Association (PWSA). A website for this RDCRC is available at www.circ.uab.edu. This site will be amplified to include a wide range of information for AS, RTT, and PWS.

这是由具有长期研究经验的跨机构研究人员小组提出的竞争性续展申请。对 Angelman 综合征 (AS)、Rett 综合征 (RTT) 和 Prader-Willi 综合征 (PWS) 的兴趣继续罕见疾病临床研究网络 (RDCRN) 内的罕见疾病临床研究中心 (RDCRC)。该中心将根据近期潜力的预期，重点关注这三种疾病。有意义的治疗很强大。 PWS 的具体目标是 1）根据基因型，2) 对患有早发病态肥胖 (EMO) 的非 PWS 个体进行自然史研究并将它们与 PWS 进行比较，3) 开发临床试验的参数和工具。试点项目涵盖这三种疾病将检查众所周知的睡眠障碍的特征和模式每个的伴奏（由 IRSF 资助）。PWS 站点将位于佛罗里达大学、堪萨斯大学、加州大学欧文分校和范德比尔特大学。 PWS RDCRC 将利用位于堪萨斯州欧文市盖恩斯维尔的 GCRC 城和纳什维尔。该中心预计将与智力和发展中心协同运作位于堪萨斯州 UAB 和范德比尔特的残疾中心 IDDRC（以前称为 MRRC）。广泛的培训计划是提议刺激新研究者进入罕见疾病临床研究（由 IRSF 资助）和 PWSA）。该中心将积极参与普瑞德威利综合症协会并获得其支持（PWSA）。该 RDCRC 的网站为 www.circ.uab.edu。该网站将被扩大以包括广泛的 AS、RTT 和 PWS 的信息范围。