Genotype-phenotype Relationship Between Cryptogenic Cholestasis and Familial Intrahepatic Cholestasis

January 13, 2025 updated by: IRCCS Azienda Ospedaliero-Universitaria di Bologna

Genotype-phenotype Relationship Between Adult Cryptogenic Cholestasis and Mutations in Genes Responsible for Progressive Familial Intrahepatic Cholestasis

Genotype-phenotype relationship between adult cryptogenic cholestasis and mutations in genes responsible for progressive familial intrahepatic cholestasis

Study Overview

Status

Recruiting

Conditions

Detailed Description

Due to the high number of unsolved cases of adults with cholestatic liver disease, it is crucial to determine the prevalence of PFIC gene mutations and gather information on various clinical presentations that often coexist. This will help identify risk factors related to the disease and its progression, ultimately allowing for personalized treatment options for affected patients.

This multicenter, retrospective observational study will collect data on patients with cholestatic liver diseases (CCLDs) from May 2013 until the study begins. Diagnoses of PFIC/CCLD/HBC will be confirmed through imaging studies, excluding other liver disease causes.

Study Type

Observational

Enrollment (Estimated)

300

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 Locations

  • Italy
      • Bologna, Italy, 40138
        • Recruiting
        • IRCCS - Azienda Ospedaliero-Universitaria di Bologna
        • Contact:
      • Modena, Italy, 41126
        • Recruiting
        • Ospedale Civile Sant'Agostino Estense Baggiovara
        • Contact:

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

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Data from all patients with PFIC/CCLDs/HBCs will be collected and retrospectively evaluated relating to the centers participating in the study from May 2013 until the start date of the study.

Description

Inclusion Criteria:

  • age ≥ 18 years
  • diagnosis of PFIC/CCLDs/HBCs
  • obtaining informed consent

Exclusion Criteria:

  • Another documented cause of chronic liver disease capable of justifying the clinical phenotype

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

Outcome Measure
Measure Description
Time Frame
Mutation classification in PFIC genes in patients with CCLDs
Time Frame: 12 months
Estimate the percentage of pathological mutations, probably pathological, variants to uncertain significance, probably benign, benign in PFIC genes in subjects with CCLDs
12 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Clinical Outcomes in PFIC Gene Mutation Carriers
Time Frame: 12 months
Percentage of patients with PFIC gene mutations affected by CCLDs, HBCs, BRIC, LPAC, ICP, DIC, advanced fibrosis, and/or neonatal jaundice
12 months
Histological Patterns of Familial Intrahepatic Cholestasis in PFIC Gene Mutation Carriers
Time Frame: 12 months
Percentages of patients with PFIC genes who have a histological pattern compatible with familial intrahepatic cholestasis.
12 months

Collaborators and Investigators

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

Sponsor

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Investigators

  • Principal Investigator: Giovanni Vitale, MD, IRCCS Azienda Ospedaliero-Universitaria di Bologna

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)

January 16, 2024

Primary Completion (Estimated)

January 1, 2025

Study Completion (Estimated)

September 1, 2025

Study Registration Dates

First Submitted

December 3, 2024

First Submitted That Met QC Criteria

January 13, 2025

First Posted (Actual)

March 25, 2025

Study Record Updates

Last Update Posted (Actual)

March 25, 2025

Last Update Submitted That Met QC Criteria

January 13, 2025

Last Verified

October 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Ad-FIC
  • 3000468 (Other Grant/Funding Number: Albireo Pharma, Inc.)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

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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