Natural History Project

自然历史项目

基本信息

  • 批准号:
    9803948
  • 负责人:
  • 金额:
    $ 25.09万
  • 依托单位:
  • 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:
  • 项目状态:
    未结题

项目摘要

NATURAL HISTORY PROJECT-ABSTRACT/PROJECT SUMMARY Congenital disorders of glycosylation (CDG), a rapidly growing group of metabolic diseases characterized by an abnormal glycosylation of biomolecules, were first described in 1980, but the first gene mutation underlying CDG was only found in 1997. Exomic and genomic sequencing engendered a rapid discovery phase of more than 130 different CDG types. Clinical manifestations are variable within and among different types, so physicians from every specialty will likely encounter patients affected by glycosylation defects. Still, limited natural history information is available for the majority of CDG due to their novelty and individual rarity. Existing studies, mostly retrospective, are subject to selection bias, missing data-points and validated patient-reported outcomes. These factors result in knowledge gaps and clinical challenges in CDG treatments and clinical trial readiness. This project's purpose is to perform a multidisciplinary long-term follow-up of a large group of individuals with CDG to define natural history, validate patient reported outcomes and share knowledge on CDG. Our clinical study team has functioned as a virtual expert consortium and will further collaborate by collecting longitudinal data to assess biochemical characteristics, growth, cognitive function, organ system involvement, medical management of symptoms, and patient reported outcomes, as well as morbidity and mortality of individuals with CDGs. To fill in our knowledge gaps in CDG, we will 1) establish the prevalence and severity of specific morbid indicators such as organ system involvement, degree of cognitive disability, and case-fatality associated with various CDG and to establish a dynamic platform to effectively disperse clinically relevant findings to families, non-expert clinicians and researchers, as well as providing a verified method to link these individuals to experts in CDG; and 2) validate the CDG rating scale and patient reported outcome /quality of life measures for CDG. During the follow up we will collect and share samples for biomarker discovery and for bio-banking. The impact of this study will be our increased understanding of CDG and improved care of affected individuals. Natural history and progression studies will further elucidate the pathophysiology of disease and will be essential for clinical trial readiness. Sharing samples and bio-banking will significantly improve diagnostics. Establishing clinical trial outcome measures is essential for successful therapeutic development. This study will additionally enable families and clinicians to access accurate current information empowering them to seek appropriate intervention.
自然历史项目-摘要/项目摘要 先天性糖基化紊乱(CDG)是一组迅速增长的代谢性疾病,其特征是 生物分子的糖基化异常在1980年首次被描述,但CDG的第一个基因突变 是1997年才发现的。外显子组和基因组测序产生了130多个快速发现阶段 不同的CDG类型。临床表现在不同的类型之间和在不同的类型之间是不同的,所以来自每种类型的医生 SPECURE可能会遇到糖基化缺陷的患者。然而,有限的自然历史信息是 由于其新颖性和个人稀有性,可供大多数CDG使用。现有的研究大多是回溯性的, 受制于选择偏差、遗漏数据点和患者报告的有效结果。这些因素导致了 CDG治疗和临床试验准备方面的知识差距和临床挑战。这个项目的目的是 对一大群CDG患者进行多学科长期随访,以确定自然历史, 验证患者报告的结果并分享有关CDG的知识。 我们的临床研究团队已经作为一个虚拟专家联盟发挥了作用,并将通过收集 用于评估生化特征、生长发育、认知功能、器官系统受累的纵向数据, 症状的医疗管理,患者报告的结果,以及个人的发病率和死亡率 带着CDG。 为了填补我们在CDG方面的知识空白,我们将1)建立特定病态指标的流行率和严重性 如器官系统受累、认知障碍程度和与各种CDG相关的病死率 并建立一个动态平台,有效地将临床相关研究结果分发给家庭、非专家 临床医生和研究人员,以及提供一种经过验证的方法,将这些人与CDG专家联系起来;以及2) 验证CDG评定量表和患者报告的CDG结果/生活质量测量。在后续行动中 我们将收集和分享生物标记物发现和生物银行的样本。 这项研究的影响将是我们增加了对CDG的了解,并改善了对受影响个人的护理。 自然病史和进展研究将进一步阐明疾病的病理生理学,并将是 临床试验准备就绪。共享样本和生物银行将显著提高诊断水平。建立临床部 试验结果评估对于成功的治疗开发至关重要。这项研究还将使 家庭和临床医生获得准确的最新信息,使他们能够寻求适当的干预。

项目成果

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Christina Lam其他文献

Christina Lam的其他文献

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{{ truncateString('Christina Lam', 18)}}的其他基金

Natural History Project
自然历史项目
  • 批准号:
    10264857
  • 财政年份:
    2019
  • 资助金额:
    $ 25.09万
  • 项目类别:
Natural History Project
自然历史项目
  • 批准号:
    10017350
  • 财政年份:
    2019
  • 资助金额:
    $ 25.09万
  • 项目类别:
Natural History Project
自然历史项目
  • 批准号:
    10480831
  • 财政年份:
    2019
  • 资助金额:
    $ 25.09万
  • 项目类别:
Natural History Project
自然历史项目
  • 批准号:
    10686330
  • 财政年份:
    2019
  • 资助金额:
    $ 25.09万
  • 项目类别:

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