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
- Are there results?
- None posted in the registry
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.
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.
- More trials run by IRCCS Azienda Ospedaliero-Universitaria di BolognaThe sponsor's other registered studies.
- 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
- 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
Study at a glance
From the registry record, last updated by the sponsor on 17 Jan 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genotype-phenotype Relationship Between Adult Cryptogenic Cholestasis and Mutations in Genes Responsible for Progressive Familial Intrahepatic Cholestasis
- ClinicalTrials.gov ID
- NCT06781242
- Acronym / sponsor ID
- Ad-FIC
- Conditions
- Cholestatic Liver Disease, Intrahepatic Cholestasis, Progressive Familial Intrahepatic Cholestasis, Hepatobiliary Cancer
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- IRCCS Azienda Ospedaliero-Universitaria di BolognaUniversity, hospital or other
- Study start
- 16 Jan 2024 (actual)
- Primary completion
- Jan 2025 (estimated)
- Study completion
- Sep 2025 (estimated)
- First posted
- 17 Jan 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Genotype-phenotype relationship between adult cryptogenic cholestasis and mutations in genes responsible for progressive familial intrahepatic cholestasis
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- 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.
Key inclusion criteria (3 listed)
- age ≥ 18 years
- diagnosis of PFIC/CCLDs/HBCs
- obtaining informed consent
Key exclusion criteria (1 listed)
- Another documented cause of chronic liver disease capable of justifying the clinical phenotype
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
2 secondary outcomes
Clinical Outcomes in PFIC Gene Mutation Carriers
Time frame: 12 months
Histological Patterns of Familial Intrahepatic Cholestasis in PFIC Gene Mutation Carriers
Time frame: 12 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Jan 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Giovanni Vitale, MD principal investigator
IRCCS Azienda Ospedaliero-Universitaria di Bologna
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cholestatic Liver Disease and Intrahepatic Cholestasis, run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 2 sites in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 17 Jan 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Giovanni Vitale, MD (0512144187, giovanni.vitale@aosp.bo.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Mutation classification in PFIC genes in patients with CCLDs (time frame: 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Jan 2025.