NCT06781242

Brief Summary

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

Trial Health

57
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
300

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Jan 2024

Geographic Reach
1 country

2 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 16, 2024

Completed
11 months until next milestone

First Submitted

Initial submission to the registry

December 3, 2024

Completed
29 days until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2025

Completed
16 days until next milestone

First Posted

Study publicly available on registry

January 17, 2025

Completed
8 months until next milestone

Study Completion

Last participant's last visit for all outcomes

September 1, 2025

Completed
Last Updated

January 17, 2025

Status Verified

October 1, 2024

Enrollment Period

12 months

First QC Date

December 3, 2024

Last Update Submit

January 13, 2025

Conditions

Cholestatic Liver DiseaseIntrahepatic CholestasisProgressive Familial Intrahepatic CholestasisHepatobiliary Cancer

Outcome Measures

Primary Outcomes (1)

  • Mutation classification in PFIC genes in patients with CCLDs

    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 Outcomes (2)

  • Clinical Outcomes in PFIC Gene Mutation Carriers

    12 months

  • Histological Patterns of Familial Intrahepatic Cholestasis in PFIC Gene Mutation Carriers

    12 months

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-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.

You may qualify if:

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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

IRCCS - Azienda Ospedaliero-Universitaria di Bologna

Bologna, Bologna, 40138, Italy

RECRUITING

Ospedale Civile Sant'Agostino Estense Baggiovara

Modena, Modena, 41126, Italy

RECRUITING

MeSH Terms

Conditions

Cholestasis, IntrahepaticCholestasis, progressive familial intrahepatic 1

Condition Hierarchy (Ancestors)

CholestasisBile Duct DiseasesBiliary Tract DiseasesDigestive System DiseasesLiver Diseases

Study Officials

  • Giovanni Vitale, MD

    IRCCS Azienda Ospedaliero-Universitaria di Bologna

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Giovanni Vitale, MD

CONTACT

0512144187giovanni.vitale@aosp.bo.it

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

December 3, 2024

First Posted

January 17, 2025

Study Start

January 16, 2024

Primary Completion

January 1, 2025

Study Completion

September 1, 2025

Last Updated

January 17, 2025

Record last verified: 2024-10

Locations

IT(2)