PDF(Pubmed)
Abstract：
This study includes over 11.6M newborns screened (NBS) for Pompe Disease (PD) from 29 distinct universal screening programs across 8 countries and 4 continents. The birth prevalence of PD is 1:18,711, with no evidence of difference across populations of European, Latin American, or Asian ancestry, though differences may exist for PD subtypes. This study also compares these results, based on direct detection of disease and analyzed using a binomial method along with power analysis, with other methods for estimating the \'frequency\' of rare genetic diseases (such as utilizing Hardy-Weinberg equilibrium on allele frequency and confidence interval analysis). This comparison demonstrates the implications of sample size and frames a discussion on its influence on the reliability of results when extrapolating to a population beyond the study dataset.
UNASSIGNED: Primary: Establish a new figure for prevalence at birth for Pompe disease by collecting and analyzing the largest relevant dataset to date and using that result to project population prevalence at birth in a novel way. Secondary: Compare these results to previous analyses to offer a framework for evaluating \'frequency\' data that can be applied to other rare, genetic diseases, along with methods to assess quality of estimates.
UNASSIGNED: Primary: Establish a new figure for prevalence at birth for Pompe disease by collecting and analyzing the largest relevant dataset to date and using that result to project population prevalence at birth in a novel way. Secondary: Compare these results to previous analyses to offer a framework for evaluating \'frequency\' data that can be applied to other rare, genetic diseases, along with methods to assess quality of estimates.
摘要：
这项研究包括来自8个国家和4大洲的29个不同的通用筛查计划中的超过1160万新生儿筛查（NBS）的庞贝病（PD）。PD的出生患病率为1：18,711，欧洲人群之间没有差异的证据，拉丁美洲,或者亚洲血统，尽管PD亚型可能存在差异。本研究还比较了这些结果，基于疾病的直接检测，并使用二项式方法和功率分析进行分析，与其他估计罕见遗传病的频率的方法（例如利用等位基因频率和置信区间分析的Hardy-Weinberg平衡）。此比较证明了样本量的含义，并讨论了其对研究数据集以外的人群外推时对结果可靠性的影响。
■主要：通过收集和分析迄今为止最大的相关数据集，并利用该结果以新颖的方式预测出生时的人口患病率，建立一个新的庞贝氏病出生时患病率数据。次要：将这些结果与以前的分析进行比较，以提供评估“频率”数据的框架，该框架可应用于其他稀有，遗传性疾病,以及评估估计质量的方法。
■主要：通过收集和分析迄今为止最大的相关数据集，并利用该结果以新颖的方式预测出生时的人口患病率，建立一个新的庞贝氏病出生时患病率数据。次要：将这些结果与以前的分析进行比较，以提供评估“频率”数据的框架，该框架可应用于其他稀有，遗传性疾病,以及评估估计质量的方法。
