Angelman Syndrome (AS)

天使综合症 (AS)

基本信息

批准号：
8539393
负责人：
Alan Kenneth Percy
金额：
$ 3.48万
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：
资助国家：
美国
起止时间：
至 2014-09-16
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8539393
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 Diagnosis Diet Disease Dose Double-Blind Method Effectiveness Electronics Enrollment Family Folate Foundations Funding Future Gastroesophageal reflux disease Genetic Genotype Grant Individual Instruction 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 intellectual and developmental disability interest novel diagnostics nutrition psychosocial randomized placebo controlled trial repository scoliosis symposium treatment trial trend web site working group

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 Diagnosis Diet Disease Dose Double-Blind Method Effectiveness Electronics Enrollment Family Folate Foundations Funding Future Gastroesophageal reflux disease Genetic Genotype Grant Individual Instruction 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 intellectual and developmental disability interest novel diagnostics nutrition psychosocial randomized placebo controlled trial repository scoliosis symposium treatment trial trend web site working group

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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。 AS 1）对个体进行纵向评估的具体目的根据基因型和2）基于分子缺损建立基因型 - 表型相关性类型。探索性目的是检查现有疗法的功效，包括发育干预措施关于基因型 - 表型。动物模型研究的最新结果为临床提供了基础未来5年的审判。 AS RDCRC站点将位于贝勒的Rady儿童医院圣地亚哥医学院，波士顿儿童医院，格林伍德遗传中心和范德比尔特大学；站点处波士顿，休斯顿和纳什维尔将利用GCRC。预计该中心将与贝勒医院UAB的智力和发育残疾中心-IDDRC（以前是MRRC）波士顿和范德比尔特。提出了一项广泛的培训计划，以刺激新的进入研究人员研究稀有疾病的临床研究（由1RSF和PWSA资助）。中心将有活跃与Angelman综合征基金会（ASF）的隶属关系并获得支持。此RDCRC的网站可在www.circ.uab.edu上找到。该站点将被放大，以包含AS，RTT的广泛信息和PWS。