Actively Recruiting

Age: 18Years +
All Genders
NCT07191704

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

Led by Ipsen · Updated on 2026-04-30

150

Participants Needed

10

Research Sites

33 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

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

Who Can Participate

Age: 18Years +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Adults 18 years or older who provide written informed consent before data collection and study procedures
  • Unexplained recurrent and/or chronic cholestasis, defined by elevated alkaline phosphatase (ALP) or Gamma-Glutamyl Transferase (GGT) above normal limits
  • Patients willing to provide a blood sample for genetic analysis
Not Eligible

You will not qualify if you...

  • Patients with confirmed causes of cholestasis such as Primary Biliary Cholangitis or Primary/Secondary Sclerosing Cholangitis
  • Patients with bile duct obstruction
  • Patients with other liver diseases including cholestasis due to hepatocellular injury, viral hepatitis (Hepatitis A, B, or C), toxic or drug-induced hepatitis, or autoimmune hepatitis
  • Patients with intestinal failure or on total parenteral nutrition
  • Patients with Wilson's disease, choledochal cyst, Caroli Syndrome, or thick bile due to haemolysis

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 10 locations

1

H. Clinic (first CEIm)

Barcelona, Spain

Actively Recruiting

2

H. Vall Hebron

Barcelona, Spain

Not Yet Recruiting

3

H. Reina Sofía

Córdoba, Spain

Not Yet Recruiting

4

H. Dr. Negrín

Las Palmas, Spain

Not Yet Recruiting

5

H. Gregorio Marañón

Madrid, Spain

Not Yet Recruiting

6

Hospital Universitario La Paz

Madrid, Spain

Not Yet Recruiting

7

H. Virgen del Rocío

Seville, Spain

Not Yet Recruiting

8

H. La Fe

Valencia, Spain

Not Yet Recruiting

9

H. Río Hortega

Valladolid, Spain

Actively Recruiting

10

H. Miguel Servet

Zaragoza, Spain

Actively Recruiting

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Research Team

I

Ipsen Clinical Study Enquiries

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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