Spanish study hunts for hidden liver disease genes
NCT ID NCT07191704
First seen Jun 27, 2026 · Last updated Aug 04, 2026 · Updated 3 times
Summary
This study looks for genetic changes linked to progressive familial intrahepatic cholestasis (PFIC) in adults with unexplained bile flow problems. Researchers will collect health information and blood samples from 150 participants across Spain during a single visit. The goal is to find how common these gene changes are, so doctors can diagnose PFIC more clearly and create personalized treatment plans.
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Study facts
What this study's own registry entry says, in plain language.
- Participants
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150 people
The number who actually took part.
- Started
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Dec 2025
- Finished
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Jun 2026
- Lead sponsor
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A company
The lead sponsor is a pharmaceutical, biotech, or medical-device company.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
150 patients, both male and female, of age (≥ 18 years) with unexplained recurrent and/or chronic cholestasis (idiopathic cholestasis) will be recruited
- Ages
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18 years and older
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
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Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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H. Clinic (first CEIm)
Barcelona, Spain
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H. Dr. Negrín
Las Palmas, Spain
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H. Gregorio Marañón
Madrid, Spain
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H. La Fe
Valencia, Spain
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H. Miguel Servet
Zaragoza, Spain
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H. Reina Sofía
Córdoba, Spain
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H. Río Hortega
Valladolid, Spain
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H. Vall Hebron
Barcelona, Spain
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H. Virgen del Rocío
Seville, Spain
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Hospital Universitario La Paz
Madrid, Spain
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