Genotype-phenotype Relationship Between Cryptogenic Cholestasis and Familial Intrahepatic Cholestasis

NCT ID: NCT06781242

Last Updated: 2025-01-17

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-01-16

Study Completion Date

2025-09-30

Brief Summary

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

Detailed Description

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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.

Conditions

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Cholestatic Liver Disease Intrahepatic Cholestasis Progressive Familial Intrahepatic Cholestasis Hepatobiliary Cancer

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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IRCCS Azienda Ospedaliero-Universitaria di Bologna

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Giovanni Vitale, MD

Role: PRINCIPAL_INVESTIGATOR

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Locations

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IRCCS - Azienda Ospedaliero-Universitaria di Bologna

Bologna, Bologna, Italy

Site Status RECRUITING

Ospedale Civile Sant'Agostino Estense Baggiovara

Modena, Modena, Italy

Site Status RECRUITING

Countries

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Italy

Central Contacts

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Giovanni Vitale, MD

Role: CONTACT

0512144187

Facility Contacts

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Giovanni Vitale, PhD, MD

Role: primary

0512144187

Pietro Andreone

Role: primary

0594223481

Other Identifiers

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3000468

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

Ad-FIC

Identifier Type: -

Identifier Source: org_study_id

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