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。 RTT 的具体目标是 1) 建立表型/基因型相关性在广泛的 Rett 表型上，2) 对广泛的 Rett 群体进行纵向研究患有 Rett 的个体，以及 3) 将生存研究扩展到广泛的 Rett 个体。最近的结果动物模型研究为未来5年的临床试验提供了基础。另外，证据拟议的关于这三种疾病的睡眠功能障碍的试点研究应该为以下研究提供基础： RTT 睡眠临床试验。 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。这奥克兰、芝加哥、新不伦瑞克和迈阿密的旅行诊所将继续为游客提供地理多样性研究参与者。该中心预计将与智力和发展中心协同运作位于 UAB、波士顿儿童医院和贝勒的残疾中心 IDDRC（以前称为 MRRC）。广泛的拟议培训计划是为了刺激新研究人员进入罕见病临床研究疾病（由 IRSF 和 PWSA 资助）。 RTT 站点将与 International Rett 有积极的联系综合症基金会（IRSF）。该 RDCRC 的网站为 www.circ.uab.edu。该网站将扩大以包括有关所有三种疾病的广泛信息。