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 | Recruiting

• 1 other identifier: CLIN-60240-453
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 10

Brief 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

Keywords

Cholestasis

Outcome Measures

Primary Outcomes (1)

• Percentage of Participants with at least One Variant in PFIC-Related Genes

  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.

  At enrollment

Secondary Outcomes (30)

• 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

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

150 patients, both male and female, of age (≥ 18 years) with unexplained recurrent and/or chronic cholestasis (idiopathic cholestasis) will be recruited

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Ipsen: lead

Study Sites (10)

H. Clinic (first CEIm)

Barcelona, Spain

RECRUITING

H. Vall Hebron

Barcelona, Spain

NOT YET RECRUITING

H. Reina Sofía

Córdoba, Spain

NOT YET RECRUITING

H. Dr. Negrín

Las Palmas, Spain

NOT YET RECRUITING

H. Gregorio Marañón

Madrid, Spain

NOT YET RECRUITING

Hospital Universitario La Paz

Madrid, Spain

NOT YET RECRUITING

H. Virgen del Rocío

Seville, Spain

NOT YET RECRUITING

H. La Fe

Valencia, Spain

NOT YET RECRUITING

H. Río Hortega

Valladolid, Spain

RECRUITING

H. Miguel Servet

Zaragoza, Spain

RECRUITING

MeSH Terms

Conditions

Cholestasis, progressive familial intrahepatic 1; Cholestasis

Condition Hierarchy (Ancestors)

Bile Duct Diseases; Biliary Tract Diseases; Digestive System Diseases

Study Officials

• Ipsen Medical Director

  Ipsen

  STUDY DIRECTOR

Central Study Contacts

Ipsen Clinical Study Enquiries

CONTACT

See Email; clinical.trials@ipsen.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 17, 2025
• First Posted: September 25, 2025
• Study Start: December 8, 2025
• Primary Completion (Estimated): July 31, 2026
• Study Completion (Estimated): July 31, 2026
• Last Updated: April 30, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will share
• Time Frame: Where applicable, data from eligible studies are available 6 months after the studied medicine and indication have been approved in the US and/or EU.
• Access Criteria: Further details on Ipsen's sharing criteria and process for sharing are available here (https://www.ipsen.com/science/clinical-trials/clinical-data-transparency/).

Locations

ES (10)