Rett Syndrome (RTT)

这是一个竞争性的续期申请，来自一个机构间的研究小组， 对Angelman综合征（AS）、Rett综合征（RTT）和Prader-Willi综合征（PWS）感兴趣， 罕见病临床研究网络（RDCRN）中的罕见病临床研究中心（RDCRC）。 该中心将重点关注这三种疾病的基础上，预期近期的潜力， 有意义的治疗很有效RTT的具体目标是：1）建立表型/基因型相关性 在广泛的Rett表型，2）进行纵向研究的广泛人口 个体与Rett，和3）扩大生存研究的广泛范围的Rett个人。最近的结果 为今后5年的临床试验提供了基础。此外，证据 提出的关于这三种疾病中睡眠功能障碍的试点研究应该为以下方面提供基础： 一项关于RTT睡眠的临床试验。RTT组成站点包括UAB、波士顿儿童医院、格林伍德 遗传中心和贝勒医学院。GCRC将在伯明翰、波士顿和休斯顿使用。的 奥克兰、芝加哥、新不伦瑞克和迈阿密的旅行诊所将继续为 研究参与者。该中心预计将与智力和发展中心协同运作。 残疾中心IDDRC（前身为MRRC）在UAB，儿童医院波士顿和贝勒。一个广泛 为激励新研究者进入罕见病临床研究，提出了培训计划。 疾病（由IRSF和PWSA资助）。RTT站点将与国际Rett 综合症基金会（IRSF）。该RDCRC的网站是www.circ.uab.edu。本网站将 扩大到包括所有三种疾病的广泛信息。

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 RTT will be 1) to establish phenotype/genotype correlations over a broad spectrum of Rett phenotypes, 2) to perform longitudinal studies on an extensive population of individuals with Rett, and 3) to extend the survival study on a broad spectrum of Rett individuals. Recent results from studies in animal models provide a basis for clinical trials in the next 5 years. In addition, evidence emerging from the proposed pilot study on sleep dysfunction in the three disorders should provide the basis for a clinical trial on sleep in RTT. The RTT component sites include UAB, Children's Hospital Boston, Greenwood Genetic Center, and Baylor College of Medicine. GCRCs will be utlized in Birmingham, Boston, and Houston. The travel clinics in Oakland, Chicago, New Brunswick, and Miami will continue to provide geographic diversity for study participants. The Center is expected to function synergistically with the Intellectual and Developmental Disability Center-IDDRC (formerly the MRRC) at UAB, Children's Hospital Boston, and Baylor. 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 RTT sites will have active affiliation with the International Rett Syndrome Foundation (IRSF). A website for this RDCRC is available at www.circ.uab.edu. This site will be amplified to include a wide range of information on all three disorders.