Randomized Controlled Trial to Assess EHR Prediction Model to Identify Pediatric Patients With Undiagnosed Genetic Disease"
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 1,000
- 试验地点
- 2
- 主要终点
- Number of Diagnoses in the intervention arm compared to the control arm
研究概览
简要总结
This study will evaluate the effectiveness of SIGHT as a clinical support system to prompt provider/patient discussion and shared decision making regarding the need for genetic testing in the form of a chromosomal microarray. Identifying patients at high predicted probability of needing a test in clinical settings will be examined to determine if it decreases the duration of time to testing and increases diagnostic yield. SIGHT requires only data already collected in routine clinical encounters and is calculated prior to a clinical visit at VUMC.
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Screening
- 盲法
- None
盲法说明
There will be no blinding of participants or physicians as patients and providers will follow standard of care. Providers may dismiss the SIGHT - prompted provider message and not act on its recommendations at any time. No other intervention is planned. Patients would be unaware of the providers' decisions in that case unless the provider chooses independently to discuss the SIGHT score with them. A sample size re-estimation will be conducted after 250 patients have been randomized to account for uncertainty in the initial test-referral rate used in the sample size calculation. An independent analyst, who will be blinded to the randomization assignment, will calculate the observed test-referral rate across all patients.
入排标准
- 年龄范围
- 1 Year 至 20 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All patients > 1 year old, < 20 years of age with a scheduled visit to the VUMC pediatric primary care.
排除标准
- •Patients who have been programmatically excluded due to having already received a chromosomal microarray at VUMC and patients > 20 years of age or < 1 year of age.
结局指标
主要结局
Number of Diagnoses in the intervention arm compared to the control arm
时间窗: 2 years
Number of patients diagnosed via a Chromosomal Microarray.
次要结局
- Rate of genetic testing(2 years)
- Diagnosis via any test (molecular confirmation)(2 years)
- Time to test(2 years)
- Abnormal CMA(2 years)
研究者
Douglas Ruderfer
Associate Professor of Medicine
Vanderbilt University Medical Center