Angelman Syndrome (AS)

天使综合症 (AS)

• 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
• 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

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。AS的具体目标是：1)对个人进行纵向评估 根据基因和2)建立基于分子缺陷的基因-表型相关性 打字。一个探索性的目标是检查包括发育干预在内的现有疗法的有效性。 关于基因-表型。动物模型研究的最新结果为临床提供了依据 在未来5年内进行试验。AS RDCRC地点将设在贝勒圣地亚哥的拉迪儿童医院 波士顿儿童医院医学院、格林伍德遗传中心和范德比尔特大学；网站 波士顿、休斯顿和纳什维尔将使用GCR。预计该中心将与 加州大学伯勒分校贝勒儿童医院智力和发育障碍中心(前身为MRRC) 波士顿和范德比尔特。提出了一项广泛的培训计划，以刺激新的 研究人员对罕见疾病的临床研究(由1RSF和PWSA资助)。该中心将有活动的 加入并接受安杰曼综合症基金会(ASF)的支持。RDCRC的网站 可在www.Circ.uab.edu上查看。这个网站将被放大，包括关于AS、RTT、 和PWS。