Genetic links between PFIC genes and symptoms in adults with recurrent cholestasis in Spain.

Characterization of Progressive Familial Intrahepatic Cholestasis (PFIC)-Related Genes in Adult Patients With Idiopathic Recurrent and Chronic Cholestasis in Spain - REGENIC

This project will test whether adults in Spain with unexplained recurrent cholestasis have PFIC-related gene changes that could explain their symptoms.

Quick facts

• Study type: Observational
• Enrollment: 150 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: Ipsen (Industry-sponsored)
• Locations: 10 sites (Barcelona and 9 other locations)
• Trial ID: NCT07191704 on ClinicalTrials.gov

What this trial studies

This observational, multicenter study in Spain will enroll adults with unexplained recurrent or chronic cholestasis and collect medical history and routine laboratory data during a single-day visit. A blood sample will be taken for routine tests and targeted genetic analysis of PFIC-related genes to identify pathogenic variants. Individuals with known causes of cholestasis are excluded to focus on idiopathic cases. The results are intended to clarify how often PFIC-related genetic variations occur in Spanish adults and to support more precise diagnoses and personalized management.

Who should consider this trial

Good fit: Adults (≥18 years) in Spain with unexplained recurrent or chronic cholestasis—defined by alkaline phosphatase or GGT above the normal range—who can give informed consent and provide a blood sample.

Not a fit: Patients with a confirmed cause of cholestasis (for example primary biliary cholangitis, sclerosing cholangitis, biliary obstruction, viral hepatitis, drug-induced liver injury, autoimmune hepatitis, Wilson disease, or other defined conditions) are unlikely to benefit from the genetic testing in this project.

Why it matters

Potential benefit: If successful, the study could help clinicians identify genetic causes of cholestasis in adults and enable more accurate diagnoses and personalized management.

How similar studies have performed: Genetic testing for PFIC-related genes has identified causative variants in some adult cholestasis cohorts internationally, but systematic data in Spanish adult populations are limited.

Eligibility criteria

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.

Where this trial is running

Barcelona and 9 other locations

• 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)

Study contacts

• Study coordinator: Ipsen Clinical Study Enquiries

Conditions PFIC - Progressive Familial Intrahepatic Cholestasis; Cholestasis