Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 115
- 试验地点
- 1
- 主要终点
- Cost of Hospitalization until Genetic Diagnosis
研究概览
简要总结
This is a pilot study involving a prospective group of 15 evaluable patients who will undergo rapid whole genome sequencing in addition to standard of care testing. Subjects will be drawn from children admitted to the NICU at OSF Health Care Children's Hospital of Illinois who meet inclusion criteria. The aims of this study are to evaluate the turn-around time and cost of performing rapid whole genome sequencing (rWGS) compared to standard of care in the diagnosis of genetic disorders among critically ill infants in a regional children's hospital and to describe management outcomes of utilizing rWGS in acutely ill patients less than four months of age.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 0 Months 至 4 Months（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients in the NICU less than 4 months of age with complex medical presentation of unknown etiology, who have 2 or more of the following are eligible:
- •critically ill* and/or organ dysfunction
- •one or more major congenital anomalies
- •dysmorphic features and/or abnormal growth parameters
- •neurologic impairment (seizure, hypotonia, encephalopathy)
- •cardiomyopathy
- •features suggestive of a metabolic disorder (eg unexplained/persistent hypoglycemia or acidosis)
- •critically ill - cardiorespiratory insufficiency requiring ventilatory or cardiac support
排除标准
- •previously confirmed specific genetic diagnosis (antenatal or postnatal)
- •obvious clinical findings for a specific condition that could be tested by targeted gene analysis
- •preterm less than 24 weeks post-menstrual age
- •ward of the state
- •parent/legal guardian refusal to give consent for participation in the study
- •patient does not meet eligibility criteria
结局指标
主要结局
Cost of Hospitalization until Genetic Diagnosis
时间窗: Duration of individual patients hospital stay typically less than 60 days
If normally distributed, we will use t test for univariate analysis, and linear regression models for multivariate analysis to assess the intervention effects. Otherwise, we will use Wilcoxon two-sample t test or robust linear regression models. For other categorical variables, we will use chi-square to compare the difference between the prospective and historical control groups. Stratified analysis will be performed in order to get insight into the relationships of the data. We will analyze data within intervention, and control group, respectively. Means and standard deviations will be reported for continuous variables, and percentage values, odds ratio, 95% confidence interval will be reported for categorical variables. The two-tailed p values are calculated for all tests, and p\<0.05 will be considered a statistically significant result. SAS 9.4 will be used for data management and data analysis.
Turnaround Time
时间窗: Duration of individual patients hospital stay typically less than 60 days
If normally distributed, we will use t test for univariate analysis, and linear regression models for multivariate analysis to assess the intervention effects. Otherwise, we will use Wilcoxon two-sample t test or robust linear regression models. For other categorical variables, we will use chi-square to compare the difference between the prospective and historical control groups. Stratified analysis will be performed in order to get insight into the relationships of the data. We will analyze data within intervention, and control group, respectively. Means and standard deviations will be reported for continuous variables, and percentage values, odds ratio, 95% confidence interval will be reported for categorical variables. The two-tailed p values are calculated for all tests, and p\<0.05 will be considered a statistically significant result. SAS 9.4 will be used for data management and data analysis.
次要结局
未报告次要终点