ANGELMAN SYNDROME NATURAL HISTORY STUDY

天使综合症自然史研究

• 批准号: 7607307
• 负责人: Wen-Hann Tan
• 金额: $ 1.45万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-04-01 至 2008-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7607307
• 关键词: Angelman Syndrome; Characteristics; Clinical; Clinical Treatment; Clinical Trials; Computer Retrieval of Information on Scientific Projects Database; Computer information processing; Condition; Data; Diagnosis; Disease Progression; Funding; Future; Genotype; Grant; Individual; Institution; Longevity; Medical; Molecular; Mutation; Natural History; Patients; Pattern; Phenotype; Physical Examination; Purpose; Quality of life; Research; Research Personnel; Resources; Source; Testing; Time; United States National Institutes of Health; clinical Diagnosis; cohort; disease natural history; medical complication; psychologic; treatment trial

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The purpose of this study is to understand the natural history of disease progression in Angelman syndrome (AS), including clinical features, medical complications, quality of life, and longevity. We intend to investigate any phenotype-genotype correlation that may exist in the molecular sub-groups of AS. At the present time, the only treatment for AS is supportive. However, recent advances in our understanding of AS suggest that the potential for effective therapies is a realistic future consideration. In order to implement clinical treatment trials, it is important to develop accurate information on the longitudinal (natural history) pattern of progression among individuals with AS. As such, the purpose of this study is to gather detailed historical and physical examination data on a large cohort of patients with AS. In the process, information on survival, quality of life, and co-morbid medical and psychological conditions will be gathered. These data will be essential for the proper conduct of future clinical trials. Individuals with a molecularly proven diagnosis of AS and those with a clinical diagnosis of AS (those meeting clinical criteria, with complete molecular testing that fails to identify a mutation) will be compared with regard to their phenotypic characteristics.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 这项研究的目的是了解安吉尔曼综合征疾病进展的自然史（AS），包括临床特征，医疗并发症，生活质量和寿命。 我们打算研究AS分子亚组中可能存在的任何表型基因型相关。 目前，唯一的治疗方法是支持。 但是，我们对我们的理解的最新进展表明，有效疗法的潜力是现实的未来考虑。 为了实施临床治疗试验，重要的是要开发有关有AS的个体的纵向（自然史）进展模式的准确信息。 因此，这项研究的目的是收集有关大量AS患者队列的详细历史和体格检查数据。 在此过程中，将收集有关生存，生活质量以及联合医学和心理状况的信息。 这些数据对于适当的将来的临床试验进行至关重要。 具有AS的分子诊断和具有AS临床诊断的人（符合临床标准，完全没有鉴定突变的临床标准的个体）将与其表型特征进行比较。