Prevalence of Alpha-1 Antitrypsin Deficiency in a Cohort of Hepatocellular Carcinoma on Non-Cirrhotic Liver Without Identified Etiologies
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- 入组人数
- 71
- 试验地点
- 1
- 主要终点
- Prevalence of Alpha-1 Antitrypsin Deficiency
研究概览
简要总结
Patients with Alpha-1 Antitrypsin Deficiency (AATD), a rare genetic disease, have a 20- to 50-fold higher risk of developing primary liver cancer (PLC), such as hepatocellular carcinoma (HCC), in both cirrhotic and non-cirrhotic livers, highlighting AATD as a potential oncogenic factor. Therefore, our aim is to evaluate the association between AATD and HCC in patients with a non-cirrhotic liver and no known predisposition
详细描述
The two most common pathogenic AATD variants, PiS and PiZ, will be identified using the multiplex digital PCR (dPCR) system in a French cohort of 71 patients who developed HCC in a non-cirrhotic liver without known risk factors for HCC
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Adult patients (≥18 years of age).
- •Histopathologically confirmed diagnosis of hepatocellular carcinoma (HCC).
- •Normal liver or chronic liver disease with minimal to moderate fibrosis in non-tumoral tissue.
- •Signed informed consent obtained prior to participation.
- •No other known etiology or risk factors for liver disease, including:
- •Alcohol-related liver disease
- •Metabolic-associated steatohepatitis (MASH)
- •Viral hepatitis infections
- •Hemochromatosis
排除标准
- •Minor patients (<18 years of age).
- •HCC diagnosis not established according to standard histopathological criteria.
- •Liver with chronic liver disease showing advanced fibrosis in non-tumoral tissue.
- •No signed informed consent prior to participation.
- •Presence of other identified etiologies or known risk factors for liver disease, including:
- •Alcohol-related liver disease
- •Metabolic-associated steatohepatitis (MASH)
- •Viral hepatitis infections
- •Hemochromatosi
结局指标
主要结局
Prevalence of Alpha-1 Antitrypsin Deficiency
时间窗: 1 year
Prevalence of Alpha-1 Antitrypsin Deficiency in a Retrospective Cohort of Patients Diagnosed with HCC on Non-Cirrhotic Liver up to 1 year
次要结局
- Correlation of clinico-biological parameters-including survival (years), sex, BMI, fibrosis stage, mode of diagnosis, number of tumors, tumor size (mm), metastasis, recurrence, and Edmondson score-according to AAT genotype(1 year)