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 (REGENIC)

July 31, 2026 updated by: Ipsen

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

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
150

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Locations

  • Spain
      • Barcelona, Spain
        • H. Vall Hebron
      • Barcelona, Spain
        • H. Clinic (first CEIm)
      • Córdoba, Spain
        • H. Reina Sofía
      • Las Palmas, Spain
        • H. Dr. Negrín
      • Madrid, Spain
        • Hospital Universitario La Paz
      • Madrid, Spain
        • H. Gregorio Marañón
      • Seville, Spain
        • H. Virgen del Rocío
      • Valencia, Spain
        • H. La Fe
      • Valladolid, Spain
        • H. Río Hortega
      • Zaragoza, Spain
        • H. Miguel Servet

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

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

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Percentage of Participants with at least One Variant in PFIC-Related Genes
Time Frame: At enrollment
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 Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Percentage of Participants Carrying Each Identified Variant of Genes related to PFIC
Time Frame: At enrollment
Defined as the percentage of participants carrying each identified variant of genes related to PFIC.
At enrollment
Demographic Data: Age at Enrollment
Time Frame: At enrollment
Defined as the mean age of participants recorded at the time of enrollment, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Demographic Data: Sex at Enrollment
Time Frame: At enrollment
Defined as the count of sex of participants recorded at the time of enrollment, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Demographic Data: Race/Ethnicity at Enrollment
Time Frame: At enrollment
Defined as the race/ethnicity of participants recorded at the time of enrollment, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Demographic Data: Weight at Enrollment
Time Frame: At enrollment
Defined as the mean weight participants recorded at the time of enrollment, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Demographic Data: Height at Enrollment
Time Frame: At enrollment
Defined as the mean height participants recorded at the time of enrollment, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Demographic Data: Body Mass Index (BMI) at Enrollment
Time Frame: At enrollment
Defined as the mean BMI, calculated by dividing participant's weight in kilograms by the square of their height in meters (BMI = weight ÷ height²), as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Demographic Data: Alcohol Consumption at Enrollment
Time Frame: At enrollment
Defined as the mean of standard drinks in a week to assess the alcohol consumption, recorded at the time of enrollment, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Age at Cholestasis Diagnosis
Time Frame: At enrollment
Defined as the mean participant's age when first symptoms were reported, as noted in medical records or participant recollection, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
History of Liver Disease
Time Frame: At enrollment
Defined as the count of presence of liver conditions such as gallstones, pancreatitis, and cirrhosis (among other relevant conditions), as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
History of Diagnostic Procedures Used
Time Frame: At enrollment
Defined as the count of presence of diagnostic procedures performed, including liver biopsy and elastography (Fibroscan) as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Presence of Liver Disease Symptoms
Time Frame: At enrollment
Defined as the count of presence of liver condition symptoms such as jaundice, pruritus and disease-related fatigue, as noted in medical records or participant recollection, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
History of liver or biliary disease related surgeries
Time Frame: At enrollment
Defined as the count of history of liver or biliary disease related surgeries, such as cholecystectomy, liver transplantation, surgical biliary diversion (SBD) or other liver-related surgery, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Family history of liver disease
Time Frame: At enrollment
Defined as the count of family history of liver disease, such as the presence or absence of PFIC, intrahepatic cholestasis of pregnancy (ICP), benign recurrent intrahepatic cholestasis (BRIC), low-phospholipid-associated cholelithiasis (LPAC), portal hypertension, hepatocellular carcinoma, cholangiocarcinoma, pancreatitis, gallstones, cirrhosis, cholestatic drug induced liver injury (DILI), Metabolic dysfunction-associated fatty liver disease (MASLD), Non-alcoholic Steatohepatitis (MASH) and any other chronic liver disease, and which close relative has suffered it (parent, grandparent, sibling, etc.), as noted in medical records or participant recollection, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Presence or Absence of Fat-Soluble Vitamin deficiencies
Time Frame: At enrollment
Defined as the count of presence or absence of vitamin deficiencies, such as vitamin A, D, E and K and supplementation, as noted in medical records or participant recollection, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Laboratory Analysis of Haematology - Haemoglobin
Time Frame: At enrollment
Defined as the last recorded routine analysis of haemoglobin, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Laboratory Analysis of Haematology - Red Blood Cell (RBC) count
Time Frame: At enrollment
Defined as the last recorded routine analysis of RBC count, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Laboratory Analysis of Haematology - Leukocytes
Time Frame: At enrollment
Defined as the last recorded routine analysis of leukocytes, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Laboratory Analysis of Haematology - Platelets
Time Frame: At enrollment
Defined as the last recorded routine analysis of platelets, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Laboratory Analysis of Chemistry - Alanine aminotransferase (ALT)
Time Frame: At enrollment
Defined as the recorded routine analysis of ALT, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Laboratory Analysis of Chemistry - Aspartate aminotransferase (AST)
Time Frame: At enrollment
Defined as the recorded routine analysis of AST, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Laboratory Analysis of Chemistry - Alkaline Phosphatase (ALP)
Time Frame: At enrollment
Defined as the recorded routine analysis of ALP, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Laboratory Analysis of Chemistry - Total and direct bilirubin
Time Frame: At enrollment
Defined as the recorded routine analysis of total and direct bilirubin, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Laboratory Analysis of Chemistry - Bile Acids (sBA)
Time Frame: At enrollment
Defined as the recorded routine analysis of sBA, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Laboratory Analysis of Chemistry - Gamma-Glutamyl Transferase (GGT)
Time Frame: At enrollment
Defined as the recorded routine analysis of GGT, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Laboratory Analysis of Chemistry - Albumin
Time Frame: At enrollment
Defined as the recorded routine analysis of albumin, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Laboratory Analysis of Coagulation - Prothrombin time
Time Frame: At enrollment
Defined as the recorded routine analysis of prothrombin time, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Laboratory Analysis of Coagulation - International Normalized Ratio (INR)
Time Frame: At enrollment
Defined as the recorded routine analysis of INR, as noted in medical records, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Frequency of Prior and Concomitant treatment for cholestatic liver disease and pruritus.
Time Frame: At enrollment
Defined as the count of prior and concomitant treatment for cholestatic liver disease and pruritus: ursodeoxycholic acid (UDCA), cholestyramine, rifampicin, fibrates, ileal bile acid transporter inhibitors (IBATi), selective serotonin reuptake inhibitors (SSRI), opioid antagonists, Chaperones (4- phenylbutyrate, [4-PB]) skin emollients or others, as noted in medical records or participant recollection, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment
Comorbidities of interest (i.e., diabetes, metabolic syndrome, osteopenia/osteoporosis)
Time Frame: At enrollment
Defined as the count of comorbidities of interest, such as diabetes, metabolic syndrome, osteopenia/osteoporosis, as noted in medical records or participant recollection, stratified by the PFIC type - comparing those with the most prevalent PFIC variant against all other participants.
At enrollment

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Ipsen

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Study Director: Ipsen Medical Director, Ipsen

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
December 8, 2025

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
June 3, 2026

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
June 3, 2026

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
September 17, 2025

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
September 17, 2025

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
September 25, 2025

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
August 3, 2026

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
July 31, 2026

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
July 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • CLIN-60240-453

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

Qualified researchers may request access to patient level data and related study documents including the clinical study report, study protocol with any amendments, annotated case report form, statistical analysis plan, and dataset specifications.

Patient level data will be anonymized and study documents will be redacted to protect the privacy of study participants.

IPD Sharing 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.

IPD Sharing 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/).

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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