Biliary Atresia Study in Infants and Children (BASIC)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 1,265
- 试验地点
- 32
- 主要终点
- To identify the gene or genes implicated in the etiology of BA
研究概览
简要总结
Little is known about the factors that cause biliary atresia nor the factors that influence disease progression. The purpose of this study is to collect the pertinent clinical information, genetic material and body fluid samples to enable investigators to address the following aims: To identify the gene or genes implicated in the etiology of BA; To characterize the natural history of the older, non-transplanted child with BA.
详细描述
Little is known about the factors that cause biliary atresia nor the factors that influence disease progression. A variety of genetic, autoimmune and environmental influences have been hypothesized to be important. Most studies to date have focused on the neonate and young child with BA, yet the older surviving child with BA can provide important information about genetics, as well as, natural history.
The purpose of this study is to collect the pertinent clinical information, genetic material and body fluid samples to enable investigators to address the following hypotheses:
Hypothesis 1: A genetic defect is a likely causative factor for BA among children with BA and multiple congenital anomalies.
Hypothesis 2a: Sentinel events such as variceal bleeding, ascites and growth failure are earlier predictors of death or need for liver transplantation than the pediatric end-stage liver disease score (PELD).
Hypothesis 2b: Health related quality of life will be impaired compared to healthy age matched children and relate to severity of illness.
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
- 6 Months 至 20 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Participants need to have a confirmed diagnosis of BA determined by chart review including review of pertinent diagnostic biopsy reports, radiologic reports and surgical reports (if surgery was performed).
- •Participants need to be >6 months of age up to and equal to the age of 20 (participants enrolled at 20 years of age will have one visit).
- •Participants with their native liver.
- •Parent, guardian or participant (if 18 years of age or older) is willing to provide informed consent and, when appropriate, the participant is willing to assent.
排除标准
- •Currently participating in the ChiLDReN study PROBE.
- •Inability to confirm original diagnostic evaluation of biliary atresia.
- •Inability or unwillingness of family or participant to participate in all scheduled visits.
- •History of liver transplantation.
结局指标
主要结局
To identify the gene or genes implicated in the etiology of BA
时间窗: Specimens for this aim are collected once during study, usually at baseline.
The genetics of BA may be investigated on two levels. The first is to identify a group of patients whose etiology is a result of a genetic defect and the second is to examine the influence of genetics on disease acquisition.
次要结局
- Define the natural history of the older, non-transplanted child with biliary atresia(Observational information collected at entrance into study as well as at each yearly follow-up visit.)
- Define the natural history of the older, non-transplanted child with biliary atresia(Observational information collected at entrance into study as well as at each yearly follow-up visit.)