Prader-Willi Syndrome (PWS)

这是一个机构间调查小组提出的竞争性续签申请，该小组长期以来 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)。 该中心将把重点放在这三种疾病上，基于这样的预期，即 有意义的治疗效果很好。PWS的具体目标是：1)按照以下原则进行纵向研究 2)对早发病态肥胖(EMO)的非PWS患者进行自然病史研究 并将它们与PWS进行比较，3)开发用于临床试验的参数和工具。一个横跨多个领域的试点项目 这三种障碍将考察众所周知的睡眠障碍的特征和模式 每个项目的伴奏(由IRSF资助)。PWS地点将设在佛罗里达大学、华盛顿大学 堪萨斯州、加州大学欧文分校和范德比尔特大学。PWS RDCRC将利用堪萨斯州盖恩斯维尔、欧文、堪萨斯州的GCR 城市和纳什维尔。预计该中心将与智力和发展中心协同发挥作用 残疾中心-UAB、堪萨斯州和范德比尔特的IDDRC(前身为MRRC)。一项广泛的培训计划是 建议鼓励新的研究人员参与罕见病的临床研究(由IRSF资助 和PWSA)。该中心将与Prader-Willi综合征协会积极联系并提供支持 (PWSA)。有关RDCRC的网站，请访问www.Circ.uab.edu。这个网站将被扩大到包括广泛的 AS、RTT和PWS的信息范围。

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.