Cholestatic Liver DiseaseNCT06781242
Genotype-phenotype Relationship Between Cryptogenic Cholestasis and Familial Intrahepatic Cholestasis
An observational study of Cholestatic Liver Disease and Intrahepatic Cholestasis, run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 2 sites in Italy.
Trial summary
Genotype-phenotype relationship between adult cryptogenic cholestasis and mutations in genes responsible for progressive familial intrahepatic cholestasis Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Cholestatic Liver Disease, Intrahepatic Cholestasis, Progressive Familial Intrahepatic Cholestasis
- How many people
- 300 participants
- Where
- 2 sitesItaly
- Study dates
- 16 Jan 2024to Sep 2025
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- age ≥ 18 years
- diagnosis of PFIC/CCLDs/HBCs
- obtaining informed consent
Who cannot join
- Another documented cause of chronic liver disease capable of justifying the clinical phenotype
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Italy2 sites, 2 recruiting
- Recruiting
IRCCS - Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, 40138
Giovanni Vitale, PhD, MD, 0512144187, giovanni.vitale@aosp.bo.it
- Recruiting
Ospedale Civile Sant'Agostino Estense Baggiovara
Modena, Modena, 41126
Pietro Andreone, 0594223481, andreone.pietro@aou.mo.it
About this study
Official title: 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
Read the 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.
- Conditions
- Cholestatic Liver Disease, Intrahepatic Cholestasis, Progressive Familial Intrahepatic Cholestasis, Hepatobiliary Cancer
- Medical subject headings
- Cholestasis, Intrahepatic, Cholestasis, progressive familial intrahepatic 1
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 12 months
Secondary outcomes (2)
Clinical Outcomes in PFIC Gene Mutation Carriers
Percentage of patients with PFIC gene mutations affected by CCLDs, HBCs, BRIC, LPAC, ICP, DIC, advanced fibrosis, and/or neonatal jaundice
Measured: 12 months
Histological Patterns of Familial Intrahepatic Cholestasis in PFIC Gene Mutation Carriers
Percentages of patients with PFIC genes who have a histological pattern compatible with familial intrahepatic cholestasis.
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Jan 2025
- Study start16 Jan 2024
- Primary completionJan 2025 (estimated)
- Study completionSep 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cholestatic Liver DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Giovanni Vitale, MD, Principal investigator, IRCCS Azienda Ospedaliero-Universitaria di Bologna
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06781242
- Sponsor's protocol ID
- Ad-FIC
- Other IDs
- 3000468
- Status last verified
- Oct 2024
- First submitted
- 3 Dec 2024
- Last updated
- 17 Jan 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No