Development of Rapid Diagnostics for Genetic Disorders in Neonates Using a Novel Targeted Genomic DNA Sequencing Analysis Panel.
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 100
- 试验地点
- 2
- 主要终点
- Identification of genes associated with congenital diseases
研究概览
简要总结
The goal of this study is to test a prototype genomic blood analysis for identifying rare diseases in infants hospitalized in the neonatal intensive care unit (NICU).
The main question it aims to answer is: Does the prototype accurately identify genetic variation(s) associated with an infant's health condition?
Researchers will compare the prototype's gene identification to traditional genome sequencing methods of gene identification.
Participants will be asked to provide a very small (one-tenth of a teaspoon) sample of blood, one-time.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Health Services Research
- 盲法
- None
入排标准
- 年龄范围
- 1 Day 至 6 Months（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •neonates of any gestational age.
- •Abnormality in routine neonatal screening test.
- •Unexplained neonatal hypotonia or neonate-onset seizures.
- •Unexplained and abnormal biochemical laboratory findings.
- •Skeletal dysplasia or joint problems.
排除标准
- •Parental refusal of consent to participate.
- •Provider refusal.
- •Any condition that, in the opinion of the investigator, would interfere with interpretation of study results.
结局指标
主要结局
Identification of genes associated with congenital diseases
时间窗: birth through hospital discharge or up to 1 month of age
A finding that a participant has one of the genes among the 254 included in the targeted gene panel being used. These genes are associated with metabolic, lysosomal storage, immunodeficiency, hemoglobinopathy, and channelopathy diseases, sensorineural hearing loss, and other conditions typically exposed through newborn screening.
次要结局
未报告次要终点
研究者
Anup Katheria, M.D.
Director, Neonatal Research Institute, Sharp Mary Birch Hospital for Women and Newborns
Sharp HealthCare