Characterization of Progressive Familial Intrahepatic Cholestasis (PFIC)-Related Genes in Adult Patients With Idiopathic Recurrent and Chronic Cholestasis in Spain - REGENIC
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- Ipsen
- 入组人数
- 150
- 试验地点
- 10
- 主要终点
- Percentage of Participants with at least One Variant in PFIC-Related Genes
研究概览
简要总结
Progressive Familial Intrahepatic Cholestasis (PFIC) is a group of inherited conditions that affect how bile moves in the liver, which can lead to serious liver problems. Doctors usually recommend genetic testing for patients with unexplained bile issues-after ruling out more common causes-to better understand the problem. However, there isn't much information on how common these genetic changes are in adults with these liver issues, especially in Spain. This study will observe these genetic changes so that doctors can diagnose the condition more clearly and create personalized treatment plans.
This study will be conducted in several centers across Spain for 10 months. Each adult participant will take part in a single-day visit where their health information will be collected, and a blood sample will be taken for both routine tests and genetic analysis.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
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 old) with written informed consent prior to data collection and study procedures.
- •Unexplained recurrent and/or chronic cholestasis (idiopathic cholestasis), defined as alkaline phosphatase (ALP) or Gamma-Glutamyl Transferase (GGT) > Upper Limit of Normal (ULN).
- •Patients who provide the blood sample for the genetic analysis.
排除标准
- •Patients with clear and confirmed diagnosed causes of cholestasis, including:
- •Primary Biliary Cholangitis
- •Primary or Secondary Sclerosing Cholangitis
- •Obstruction of the bile ducts
- •Other Liver diseases: cholestasis secondary to hepatocellular injury, viral hepatitis (mainly Hepatitis A virus [HAV], Hepatitis B virus [HBV] and Hepatitis C virus [HCV]), toxic hepatitis (pharmacological; drug-induced liver injury [DILI]), autoimmune hepatitis; intestinal failure, total parenteral nutrition [TPN]; Wilson's disease, choledochal cyst, Caroli Syndrome, and thick bile due to haemolysis.
结局指标
主要结局
Percentage of Participants with at least One Variant in PFIC-Related Genes
时间窗: At enrollment
Defined as the percentage of participants with at least one variant in PFIC-related genes in relation to the total number of participants with idiopathic recurrent and/or chronic cholestasis of the study cohort as an assessment of prevalence.
次要结局
- Age at Cholestasis Diagnosis(At enrollment)
- Percentage of Participants Carrying Each Identified Variant of Genes related to PFIC(At enrollment)
- Demographic Data: Age at Enrollment(At enrollment)
- Demographic Data: Sex at Enrollment(At enrollment)
- Demographic Data: Race/Ethnicity at Enrollment(At enrollment)
- Demographic Data: Weight at Enrollment(At enrollment)
- Demographic Data: Height at Enrollment(At enrollment)
- Demographic Data: Body Mass Index (BMI) at Enrollment(At enrollment)
- Demographic Data: Alcohol Consumption at Enrollment(At enrollment)
- History of Liver Disease(At enrollment)
- Presence or Absence of Fat-Soluble Vitamin deficiencies(At enrollment)
- Laboratory Analysis of Haematology - Haemoglobin(At enrollment)
- Laboratory Analysis of Haematology - Platelets(At enrollment)
- History of Diagnostic Procedures Used(At enrollment)
- Presence of Liver Disease Symptoms(At enrollment)
- History of liver or biliary disease related surgeries(At enrollment)
- Laboratory Analysis of Chemistry - Aspartate aminotransferase (AST)(At enrollment)
- Family history of liver disease(At enrollment)
- Laboratory Analysis of Haematology - Red Blood Cell (RBC) count(At enrollment)
- Laboratory Analysis of Haematology - Leukocytes(At enrollment)
- Laboratory Analysis of Chemistry - Alanine aminotransferase (ALT)(At enrollment)
- Laboratory Analysis of Coagulation - Prothrombin time(At enrollment)
- Laboratory Analysis of Chemistry - Alkaline Phosphatase (ALP)(At enrollment)
- Laboratory Analysis of Chemistry - Total and direct bilirubin(At enrollment)
- Laboratory Analysis of Chemistry - Albumin(At enrollment)
- Laboratory Analysis of Chemistry - Bile Acids (sBA)(At enrollment)
- Laboratory Analysis of Chemistry - Gamma-Glutamyl Transferase (GGT)(At enrollment)
- Laboratory Analysis of Coagulation - International Normalized Ratio (INR)(At enrollment)
- Frequency of Prior and Concomitant treatment for cholestatic liver disease and pruritus.(At enrollment)
- Comorbidities of interest (i.e., diabetes, metabolic syndrome, osteopenia/osteoporosis)(At enrollment)