Angelman Syndrome (AS)

天使综合症 (AS)

基本信息

批准号：
8381938
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/8381938
关键词：
Am 80 Angelman Syndrome Animal Model Anticonvulsants Area Autistic Disorder Behavior Behavioral Betaine Boston Caregivers Case Report Form Characteristics Child Clinical Clinical Research Clinical Trials Collaborations Communication DNA Methylation Data Data Analyses Data Collection Defect Development Developmental Disabilities Diagnosis Diet Disease Dose Double-Blind Method Effectiveness Electronics Enrollment Family Folate Foundations Funding Future Gastroesophageal reflux disease Genetic Genotype Grant Individual Instruction Intellectual functioning disability Intervention Learning Manuscripts Medical Medicine Mental Health Mental Retardation and Developmental Disabilities Research Centers Microcephaly Molecular Mutation Natural History Occupational Therapy Outcome Parents Participant Patients Pediatric Hospitals Pharmaceutical Preparations Phenotype Physical therapy Prader-Willi Syndrome Preparation Prevalence Problem behavior Progress Reports Protocols documentation Quality of life Rare Diseases Recruitment Activity Reporting Research Infrastructure Research Personnel Rett Syndrome Seizures Severities Site Sleep Speech Strabismus Stress Support Groups Therapeutic Therapeutic Intervention Therapy Clinical Trials Time Training Programs Travel United States Universities base clinical Diagnosis cohort college cost craniofacial design early childhood effective intervention effective therapy expectation feeding follow-up gastrointestinal imprint improved interest novel diagnostics nutrition psychosocial randomized placebo controlled trial repository scoliosis symposium treatment trial trend web site working group

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 AS are 1) to conduct longitudinal assessments on individuals with AS according to genotype and 2) establish genotype-phenotype correlations based on molecular defect type. An exploratory aim is to examine the efficacy of existing therapies including developmental interventions with respect to the genotype-phenotype. Recent results from studies in animal models provide a basis for clinical trials in the next 5 years. The AS RDCRC sites will be located at Rady Children's Hospital San Diego, Baylor College of Medicine, Children's Hospital Boston, Greenwood Genetic Center, and Vanderbilt University; sites at Boston, Houston, and Nashville will utilize GCRCs. The Center is expected to function synergistically with the Intellectual and Developmental Disability Center-IDDRC (formerly the MRRC) at UAB, Baylor, Children's Hospital Boston, and Vanderbilt. An extensive training program is proposed for stimulating the entry of new investigators into clinical research on rare diseases (funded by 1RSF and PWSA). The Center will have active affiliation with and receive support from the Angelman Syndrome Foundation (ASF). 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。 AS 的具体目标是 1）对个人进行纵向评估根据基因型与 AS 进行比较，2) 根据分子缺陷建立基因型-表型相关性类型。探索性目标是检查现有疗法（包括发育干预）的功效关于基因型-表型。动物模型研究的最新结果为临床提供了基础未来5年的试验。 AS RDCRC 站点将位于贝勒圣地亚哥拉迪儿童医院医学院、波士顿儿童医院、格林伍德遗传中心和范德比尔特大学；站点位于波士顿、休斯顿和纳什维尔将使用 GCRC。该中心预计将与位于 UAB、贝勒儿童医院的智力和发育障碍中心 - IDDRC（前身为 MRRC）波士顿和范德比尔特。建议开展广泛的培训计划，以刺激新员工的加入罕见疾病临床研究的研究人员（由 1RSF 和 PWSA 资助）。中心将积极开展隶属于天使综合症基金会 (ASF) 并获得其支持。 RDCRC 的网站可在 www.circ.uab.edu 上获取。该网站将被扩大，以包括 AS、RTT、和PWS。