Hepatic Histopathology in Urea Cycle Disorders
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 70
- 试验地点
- 2
- 主要终点
- Steatosis
研究概览
简要总结
This is a multi-site, retrospective chart review as well as a prospective study to evaluate histopathologic findings in liver samples from individuals with any UCD diagnosis. This study will be conducted at all Urea Cycle Disorders Consortium (UCDC) sites: Baylor College of Medicine in Houston, TX and Children's National Medical Center in Washington D.C.
详细描述
Urea cycle disorders (UCDs) are among the most common inborn errors of liver metabolism. With early diagnosis and improved treatments, the survival of individuals with UCDs has improved, and this improved survival has led to unmasking of some long-term complications such as hepatic dysfunction and progressive fibrosis in a subset of patients. Hepatic complications in UCDs are quite variable and dependent upon the specific metabolic defect.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Diagnosis of primary urea cycle disorder based on clinical suspicion confirmed by enzyme activity, DNA testing or metabolite analysis.
- •History of liver transplantation and/or liver biopsy OR
- •Planned liver transplantation and/or liver biopsy
排除标准
- •Unavailability of histopathology report from the liver biopsy or explant, or unavailability of liver tissue or slides from the biopsy or explant OR
- •Anticipated inability to obtain pathology report, liver disease, tissue blocks, or pathology slides after liver biopsy or transplantation
- •Known history of a secondary cause for liver disease such as chronic viral hepatitis, autoimmune liver disease, short gut, small bowel syndrome, alcohol liver disease, or TPN-related cholestatic disease
结局指标
主要结局
Steatosis
时间窗: Day 1
Grade of steatosis from histopathology report from the liver biopsy or explant
Hepatic glycogenosis
时间窗: Day 1
Presence and type of glycogenosis from histopathology report from the liver biopsy or explant
Hepatic fibrosis
时间窗: Day 1
Staging of fibrosis from histopathology report from the liver biopsy or explant
次要结局
未报告次要终点
研究者
Lindsay Burrage
Principal Investigator
Baylor College of Medicine