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NCT Number: NCT06781242

Genotype-phenotype Relationship Between Cryptogenic Cholestasis and Familial Intrahepatic Cholestasis

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

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Key information

Conditions

Cholestatic Liver Disease Bile Duct Diseases Biliary Tract Diseases Cholestasis Cholestasis, Intrahepatic Cholestasis, progressive familial intrahepatic 1 Digestive System Diseases Hepatobiliary Cancer Intrahepatic Cholestasis Liver Diseases Progressive Familial Intrahepatic Cholestasis

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

IRCCS - Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. 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

Secondary outcomes

  1. 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

  2. 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Giovanni Vitale, MD

CONTACT

[email protected]

0512144187

Sponsors and collaborators

Lead sponsor

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Other

Registry information

Official study title

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

Important dates

Study start
2024
Primary completion
2025
Study completion
2025
First posted
Jan 17, 2025
Registry last updated
Jan 17, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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