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

Plain-language summary

This study assesses genetic variations in bile flow disorders and how genes related to progressive familial intrahepatic cholestasis (PFIC) may be linked to symptoms in adults with recurrent cholestasis. Adults aged 18 and older with unexplained recurrent and/or chronic cholestasis who provide a blood sample for genetic analysis may take part. The study does not use a clinical phase and is currently recruiting participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Recruiting

Sponsor

Ipsen

Start date

12/8/2025

Estimated completion

7/31/2026

Countries

Spain

Related genes

Locations

• Barcelona, Spain
• Barcelona, Spain
• Córdoba, Spain
• Las Palmas, Spain
• Madrid, Spain
• Madrid, Spain
• Seville, Spain
• Valencia, Spain
• Valladolid, Spain
• Zaragoza, Spain

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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.