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
NCT07191704 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 150
Last updated 2026-04-30
Summary
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
- PFIC - Progressive Familial Intrahepatic Cholestasis
Sponsors & Collaborators
- lead INDUSTRY
Principal Investigators
-
Ipsen Medical Director · Ipsen
Eligibility
- Min Age
- 18 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2025-12-08
- Primary Completion
- 2026-07-31
- Completion
- 2026-07-31
Countries
- Spain
Study Locations
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