Actively Recruiting
Characterization of PFIC-Related Genes in Adults With Idiopathic Recurrent and Chronic Cholestasis in Spain
Led by Ipsen · Updated on 2026-05-28
150
Participants Needed
10
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Progressive Familial Intrahepatic Cholestasis (PFIC) is a group of inherited conditions affecting bile flow in the liver, which can cause serious liver problems. This research aims to observe genetic changes related to PFIC in adults with unexplained recurrent or chronic cholestasis in Spain to improve diagnosis and help develop personalized treatments. The study is observational and involves multiple centers in Spain over a 10-month period. During the study, each adult participant will attend a single visit where health information will be collected and a blood sample will be taken for routine tests and genetic analysis. This genetic testing will help identify variants in PFIC-related genes linked to their liver condition. No experimental treatments or interventions are involved. Participants will provide medical history and undergo laboratory tests including liver function and blood analyses. Researchers will measure the percentage of participants with genetic variants related to PFIC and collect demographic and clinical data. The study focuses on gathering detailed information to better understand the genetic causes of cholestasis. Participation lasts only for the one study visit with no follow-up treatments or procedures.
CONDITIONS
Brief 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
Eligibility Criteria
You may qualify if you...
- Adult patients 18 years old or older
- Written informed consent prior to data collection and study procedures
- Unexplained recurrent and/or chronic cholestasis defined as elevated alkaline phosphatase (ALP) or Gamma-Glutamyl Transferase (GGT) above the upper limit of normal
- Ability to provide a blood sample for genetic analysis
You will not qualify if you...
- Patients with clearly diagnosed causes of cholestasis such as Primary Biliary Cholangitis
- Patients with Primary or Secondary Sclerosing Cholangitis
- Patients with bile duct obstruction
- Patients with other liver diseases including cholestasis secondary to hepatocellular injury, viral hepatitis (Hepatitis A, B, or C), toxic or drug-induced hepatitis, autoimmune hepatitis
- Patients with intestinal failure or total parenteral nutrition
- Patients with Wilson's disease, choledochal cyst, Caroli Syndrome, or thick bile due to haemolysis
AI-Screening
AI-Powered Screening
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Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - At enrollment
Participants provide demographic data, medical history, and undergo laboratory analyses to characterize genetic variations and liver-related health status.
1 visit (in-person)
Duration - Up to study completion
Participants with unexplained recurrent or chronic cholestasis are observed for ongoing health status without active intervention.
Visits as needed per routine healthcare
Trial Site Locations
Total: 10 locations
1
H. Clinic (first CEIm)
Barcelona, Spain
Actively Recruiting
2
H. Vall Hebron
Barcelona, Spain
Actively Recruiting
3
H. Reina Sofía
Córdoba, Spain
Actively Recruiting
4
H. Dr. Negrín
Las Palmas, Spain
Actively Recruiting
5
H. Gregorio Marañón
Madrid, Spain
Actively Recruiting
6
Hospital Universitario La Paz
Madrid, Spain
Actively Recruiting
7
H. Virgen del Rocío
Seville, Spain
Actively Recruiting
8
H. La Fe
Valencia, Spain
Actively Recruiting
9
H. Río Hortega
Valladolid, Spain
Actively Recruiting
10
H. Miguel Servet
Zaragoza, Spain
Actively Recruiting
Research Team
I
Ipsen Clinical Study Enquiries
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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