A Study to Assess the Genetic Variations in Bile Flow Disorders: Linking Progressive Familial Intrahepatic Cholestasis (PFIC)-Related Genes to Symptoms in Adults With Recurrent Cholestasis in Spain

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

150 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-12-08

Study Completion Date

2026-07-31

Brief Summary

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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.

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Detailed Description

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Conditions

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PFIC - Progressive Familial Intrahepatic Cholestasis

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Eligibility Criteria

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Inclusion Criteria

* 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.

Exclusion Criteria

* 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.

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No