Multi-center Study of the Liver Disease in European Patients With alpha1-antitrypsin Deficiency
试验速览
- 阶段
- 不适用
- 入组人数
- 500
- 试验地点
- 1
- 主要终点
- Number of participants with Liver fibrosis, Hepatic decompensation, Liver cancer, Death or Liver transplantation
研究概览
简要总结
Alpha1-antitrypsin deficiency (AATD) is the third most common genetic disorder leading to death worldwide. Apart from lung disease, AATD also leads to liver involvement in up to 50% of patients. Hence, liver involvement is the second most common cause of morbidity and mortality in AATD patients. But the natural history of disease in adults is not well understood and specific therapies are still in the phase of preclinical studies. Despite these facts and the therapeutic and preventative potential, the AATD-related liver disease is still largely being neglected by both the patients and the healthcare professionals.
To improve the hepatologic care of patients with AATD, the investigators initiated a prospective multi-center study in Europe that systematically evaluates the liver function in these patients and their relatives. The investigators cooperate with both patient organizations as well as with lung centers specialized on AATD-related lung disease.
详细描述
Alpha1-antitrypsin deficiency (AAT deficiency) is a frequently overlooked metabolic disorder. Apart from lung disease, AAT deficiency also leads to liver disease. This can affect people of all ages and all ethnic groups. Although involvement of the liver is the second most common cause of decreased quality of life and life expectancy in Alpha1 patients, no preventative care plan, like that one implemented to avoid lung involvement, has yet been drawn up.
Chronic liver involvement therefore often remains undetected until a very late stage in diagnosed cases of AAT deficiency. This is compounded by the fact that the patients affected generally have only unspecific symptoms if any at all. Moreover, routine diagnostic measurements (e.g. liver function tests) often reveal no abnormalities. In the case of a late diagnosis, the diverse complications of liver disease can no longer be effectively prevented.
Liver involvement in AAT deficiency can lead to liver cirrhosis or liver cancer. Liver cirrhosis is the life-threatening consequence of many liver disorders and carries a poor prognosis. Besides AAT deficiency, many other - potentially treatable - conditions, such as viral hepatitis, excessive alcohol consumption and diabetes, can cause liver damage. Liver cirrhosis itself leads to many, often life-threatening secondary disorders such as heavy bleeding or liver cancer. It is therefore crucial that liver disorders such as AAT deficiency are diagnosed at an early stage, so as to prevent complications and to treat concomitant risk factors.
The investigators collaborate with various patient support groups and other hospitals specialising in AAT deficiency-associated lung disease. Together with their collaborators, the investigators hope to improve the care of affected patients and help to bring about therapeutic advances.
The aim of this study is to clarify how liver function is modified in patients with AAT deficiency. For this, among other things, the investigators use:
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
- 18 Years 至 99 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •All patients with known AATD (every genotype)
- •Relatives of patients with known AATD
排除标准
- •Pregnant women
- •Patients who cannot give informed consent
结局指标
主要结局
Number of participants with Liver fibrosis, Hepatic decompensation, Liver cancer, Death or Liver transplantation
时间窗: 5 years
次要结局
未报告次要终点