Rett Syndrome (RTT)

雷特综合症 (RTT)

基本信息

批准号：
8381940
负责人：
Alan Kenneth Percy
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/8381940
关键词：
Affect Age Alabama American Angelman Syndrome Animal Model Anxiety Australia Behavior Boston Cause of Death Cessation of life Characteristics Chicago Clinic Clinical Clinical Research Clinical Trials Collaborations Communication Data Databases Deceleration Development Developmental Disabilities Disease Enrollment Family Family member Female Fostering Foundations France Functional disorder Funding Future Gait abnormality Gene Targeting Genes Genetic Genotype Geographic Distribution Goals Growth Hand Head Health Personnel Hyperventilation Individual Institutional Review Boards Instruction Intellectual functioning disability International Intervention Israel Japan Laboratory Study Life Longevity Longitudinal Studies Manuals Medical Medicine Mental Retardation and Developmental Disabilities Research Centers Methyl-CpG-Binding Protein 2 Molecular Genetics Monitor Motor Mutation National Center for Research Resources Natural History Neurobiology New Brunswick Nutritional Osteopenia Parents Participant Patients Pattern Pediatric Hospitals Phenotype Physicians Pilot Projects Population Population Density Prader-Willi Syndrome Progress Reports Rare Diseases Registries Research Research Personnel Resources Rett Syndrome SWI1 Sample Size Sampling Seizures Site Sleep Sleep disturbances Spain Specificity System Time Training Training Programs Training and Education Travel U-Series Cooperative Agreements Universities Ursidae Family Variant base clinical Diagnosis clinical phenotype cohort college effective intervention effective therapy expectation follow-up gastrointestinal geographic population improved interest international center knockout animal male meetings motility disorder nervous system disorder novel diagnostics nutrition operation optimism patient registry research clinical testing scoliosis skills surveillance study treatment trial 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 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.

这是一个竞争性的续约应用，由一组跨机构的调查员组成对Angelman综合征（AS），RETT综合征（RTT）和Prader-Willi综合征（PWS）的兴趣继续稀有疾病临床研究网络（RDCRN）中的罕见疾病临床研究中心（RDCRC）。该中心将根据期望的近期潜力将重点放在这三种疾病上有意义的疗法很强。 RTT的具体目的是1）建立表型/基因型相关性在广泛的RETT表型中，2）对广泛的人群进行纵向研究患有RETT的个体和3）将生存研究扩展到广泛的RETT个体上。最新结果从动物模型的研究中为未来5年提供了临床试验的基础。另外，证据从拟议的三种疾病中关于睡眠功能障碍的试点研究中出现的应为 RTT的睡眠临床试验。 RTT组件网站包括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，波士顿和休斯敦进行UTLICS。这奥克兰，芝加哥，新不伦瑞克省和迈阿密的旅行诊所将继续提供地理多样性研究参与者。预计该中心将与智力和发展协同起作用 UAB，波士顿儿童医院和贝勒的残疾中心-IDDRC（以前是MRRC）。广泛提出了培训计划，以刺激新研究人员进入稀有的临床研究疾病（由IRSF和PWSA资助）。 RTT站点将与国际RETT有积极的隶属关系综合征基金会（IRSF）。该RDCRC的网站可在www.circ.uab.edu上找到。这个网站将是放大以包括有关所有三种疾病的广泛信息。