Collaborative Defining the Natural History of Inborn errors of Metabolism

协作定义先天性代谢错误的自然史

基本信息

  • 批准号:
    8121229
  • 负责人:
  • 金额:
    $ 90万
  • 依托单位:
  • 依托单位国家:
    美国
  • 项目类别:
  • 财政年份:
    2011
  • 资助国家:
    美国
  • 起止时间:
    2011-04-15 至 2016-02-29
  • 项目状态:
    已结题

项目摘要

DESCRIPTION (Provided by Applicant): Newborn blood spot screening is undertaken with the primary assumption that early diagnosis and treatment is a good investment of public resources, both for the individuals tested and for society. Although some effects of improved outcomes seem self-evident, for most newborn-screened disorders there is no comprehensive, long-term assessment of outcomes for children identified by screening. To verify the effectiveness of early identification, intervention, and treatment, longitudinal assessment of outcomes is essential. A better understanding of the natural histories of rare metabolic disorders and the effectiveness of current treatments is necessary to provide optimum care and promote the best possible outcomes for children with these conditions. The Inborn Errors of Metabolism Collaborative (IBEMC), consisting of 13 clinics from 10 states, will collect longitudinal data that capture the clinical progress of persons affected with conditions identified by newborn screening, focusing on inborn errors of metabolism. Data will be used to better define the natural histories and understand the effect of treatment interventions. The database will allow for: 1. Investigation of the relationship among NBS values, genotype, and early manifestations as well as complications of inborn errors of metabolism; 2. Evaluation of the impact of early identification and intervention on metabolic conditions; 3. Informed decision making about optimal public health investment in NBS; 4. Clarification of the previously undefined natural history of very rare metabolic conditions; and 5. Identification of current nutritional and therapeutic interventions for children with metabolic conditions and evaluation of their effectiveness. The IBEMC will build on the work of the HRSA-funded Region 4 Genetics Collaborative and be developed in collaboration with other national efforts, including the Newborn Screening Translational Research Network. The project will establish innovative practices to engage clinicians in a culture of collaboration, provide incentives to ensure collection of both intake and interval data, as well as offer supports that encourage data analysis. These efforts will result in investigations that provide a foundation for clinical trial design and improved treatment for children with inborn errors of metabolism. RELEVANCE: As a sufficient number of cases are entered for the rarer disorders, research will provide evidence as to the efficacy of early diagnosis and treatment. If research does not support the assumption on which NBS is based, i.e., early diagnosis and treatment are good investments of public resources, both for the individuals tested and for society, the NBS public health paradigm may change. It is possible that the increase in knowledge about the natural history of IBEM will lead to a change in how conditions are added to the NBS panel and that the conditions currently in the panel may be reviewed and revised.
描述(由申请人提供):新生儿血斑筛查的主要假设是,早期诊断和治疗是一个很好的公共资源投资,无论是对个人和社会的测试。 虽然改善结果的一些效果似乎是不言而喻的,但对于大多数新筛查的疾病,没有对筛查确定的儿童的结果进行全面,长期的评估。 为了验证早期识别,干预和治疗的有效性,纵向评估结果是必不可少的。 更好地了解罕见代谢紊乱的自然史和当前治疗的有效性,对于为患有这些疾病的儿童提供最佳护理和促进最佳结果是必要的。 由来自10个州的13个诊所组成的先天性代谢缺陷协作组织(IBEMC)将收集纵向数据,这些数据将捕捉受新生儿筛查确定的疾病影响的人的临床进展,重点是先天性代谢缺陷。 数据将用于更好地定义自然史并了解治疗干预的效果。 数据库将允许:1.探讨NBS值、基因型与先天性代谢缺陷的早期表现及并发症的关系。评估早期识别和干预对代谢状况的影响; 3.国家统计局公共卫生最优投资的知情决策;澄清以前未定义的非常罕见的代谢疾病的自然史;和5。确定目前对代谢性疾病儿童的营养和治疗干预措施,并评估其有效性。 IBEMC将建立在HRSA资助的第4区遗传学合作的工作基础上,并与其他国家的努力合作开发,包括新生儿筛查转化研究网络。 该项目将建立创新实践,使临床医生参与合作文化,提供激励措施,以确保收集摄入量和间隔数据,并提供支持,鼓励数据分析。 这些努力将导致研究,为临床试验设计和改善先天性代谢缺陷儿童的治疗提供基础。 相关性:由于有足够数量的罕见疾病病例被录入,研究将为早期诊断和治疗的有效性提供证据。 如果研究不支持国家统计局所依据的假设,即,早期诊断和治疗是对公共资源的良好投资,无论是对个人还是对社会,NBS公共卫生范式可能会改变。 这是可能的,在IBEM的自然历史的知识的增加将导致如何添加到NBS面板的条件的变化,并在面板目前的条件可能会被审查和修订。

项目成果

期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)

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Susan A. Berry其他文献

Infant with multiple congenital anomalies and deletion (9)(q34.3).
患有多种先天性异常和缺失的婴儿 (9)(q34.3)。
  • DOI:
  • 发表时间:
    1994
  • 期刊:
  • 影响因子:
    0
  • 作者:
    Lisa A. Schimmenti;Susan A. Berry;Mendel Tuchman;Betsy A. Hirsch
  • 通讯作者:
    Betsy A. Hirsch
Ontogeny and pituitary regulation of testicular growth hormone-releasing hormone-like messenger ribonucleic acid.
睾丸生长激素释放激素样信使核糖核酸的个体发育和垂体调节。
  • DOI:
  • 发表时间:
    1990
  • 期刊:
  • 影响因子:
    4.8
  • 作者:
    Susan A. Berry;O. Pescovitz
  • 通讯作者:
    O. Pescovitz
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
苯丙氨酸羟化酶缺乏症的诊断和管理:美国医学遗传学和基因组学学院(ACMG)2023 年基于证据的临床指南
  • DOI:
    10.1016/j.gim.2024.101289
  • 发表时间:
    2025-01-01
  • 期刊:
  • 影响因子:
    6.200
  • 作者:
    Wendy E. Smith;Susan A. Berry;Kaitlyn Bloom;Christine Brown;Barbara K. Burton;Olivia M. Demarest;Gabrielle P. Jenkins;Jennifer Malinowski;Kim L. McBride;H. Joel Mroczkowski;Curt Scharfe;Jerry Vockley;ACMG Board of Directors
  • 通讯作者:
    ACMG Board of Directors
Understanding patient, caregiver, and healthcare provider perspectives of the management of long-chain fatty acid oxidation disorders
了解患者、护理人员和医疗保健提供者对长链脂肪酸氧化障碍管理的看法
  • DOI:
  • 发表时间:
    2024
  • 期刊:
  • 影响因子:
    0
  • 作者:
    Eileen Sullivan Baker;Jennifer Botham;Tasia Rechisky;Evelyn Romano;Daniel Garcia;Susan A. Berry
  • 通讯作者:
    Susan A. Berry
INCREASED PLACENTAL IRON-RESPONSIVE PROTEIN-1 (IRP-1) AND TRANSFERRIN RECEPTOR (TfR) mRNA IN DIABETIC PREGNANCIES COMPLICATED BY FETAL IRON DEFICIENCY † 248
糖尿病合并胎儿缺铁性贫血的孕妇胎盘铁反应蛋白-1(IRP-1)和转铁蛋白受体(TfR)mRNA 表达增加†248
  • DOI:
    10.1203/00006450-199704001-00268
  • 发表时间:
    1997-04-01
  • 期刊:
  • 影响因子:
    3.100
  • 作者:
    Michael K. Georgieff;Elizabeth A. Liebold;Jane D. Wobken;Susan A. Berry
  • 通讯作者:
    Susan A. Berry

Susan A. Berry的其他文献

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{{ truncateString('Susan A. Berry', 18)}}的其他基金

Collaborative Defining the Natural History of Inborn errors of Metabolism
协作定义先天性代谢错误的自然史
  • 批准号:
    8437224
  • 财政年份:
    2011
  • 资助金额:
    $ 90万
  • 项目类别:
Collaborative Defining the Natural History of Inborn errors of Metabolism
协作定义先天性代谢错误的自然史
  • 批准号:
    8255564
  • 财政年份:
    2011
  • 资助金额:
    $ 90万
  • 项目类别:
Collaborative Defining the Natural History of Inborn errors of Metabolism
协作定义先天性代谢错误的自然史
  • 批准号:
    8615922
  • 财政年份:
    2011
  • 资助金额:
    $ 90万
  • 项目类别:
Collaborative Defining the Natural History of Inborn errors of Metabolism
协作定义先天性代谢错误的自然史
  • 批准号:
    8813605
  • 财政年份:
    2011
  • 资助金额:
    $ 90万
  • 项目类别:
Clinical-Res-Project1
临床研究项目1
  • 批准号:
    10463796
  • 财政年份:
    2003
  • 资助金额:
    $ 90万
  • 项目类别:
Clinical-Res-Project1
临床研究项目1
  • 批准号:
    10018948
  • 财政年份:
    2003
  • 资助金额:
    $ 90万
  • 项目类别:
Clinical-Res-Project1
临床研究项目1
  • 批准号:
    10670158
  • 财政年份:
    2003
  • 资助金额:
    $ 90万
  • 项目类别:
Clinical-Res-Project1
临床研究项目1
  • 批准号:
    10241408
  • 财政年份:
    2003
  • 资助金额:
    $ 90万
  • 项目类别:
REGULATION OF HEPATOCELLULAR FUNCTION BY GROWTH HORMONE
生长激素对肝细胞功能的调节
  • 批准号:
    6150625
  • 财政年份:
    1998
  • 资助金额:
    $ 90万
  • 项目类别:
REGULATION OF HEPATOCELLULAR FUNCTION BY GROWTH HORMONE
生长激素对肝细胞功能的调节
  • 批准号:
    6350648
  • 财政年份:
    1998
  • 资助金额:
    $ 90万
  • 项目类别:

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