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Clinical Trials in Italy / NCT06781242
Recruiting Observational

Genotype-phenotype Relationship Between Cryptogenic Cholestasis and Familial Intrahepatic Cholestasis

NCT06781242 · tracked via the Priya Life Science Italy tracker
Sponsor
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Phase
Observational
Started
2024-01-16
Last updated
2025-01-17

Condition(s) studied

Cholestatic Liver DiseaseIntrahepatic CholestasisProgressive Familial Intrahepatic CholestasisHepatobiliary Cancer

Study summary

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

Eligibility

Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
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

Primary outcome measure(s)

  • Mutation classification in PFIC genes in patients with CCLDs — 12 months
    Estimate the percentage of pathological mutations, probably pathological, variants to uncertain significance, probably benign, benign in PFIC genes in subjects with CCLDs

Trial sites (2)

FacilityCityRegionStatus
IRCCS - Azienda Ospedaliero-Universitaria di Bologna Bologna Bologna Recruiting
Ospedale Civile Sant'Agostino Estense Baggiovara Modena Modena Recruiting

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Other trials for the same condition

Familial Intrahepatic Cholestasis-related Genes Associated with Disease Susceptibility in Hepato-biliary Cancers Recruiting
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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06781242 on ClinicalTrials.gov ↗ ← All trials in Italy