Clinical trial · Observational
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
NCT06781242CI-TRIAL-00084827recruitingClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
Genotype-phenotype relationship between adult cryptogenic cholestasis and mutations in genes responsible for progressive familial intrahepatic cholestasis
Conditions
Conditions (4)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cholestatic Liver Disease | — | UNRESOLVED | — |
| Hepatobiliary Cancer | Malignant Hepatobiliary Neoplasm | ALIAS | 0.90 |
| Intrahepatic Cholestasis | — | UNRESOLVED | — |
| Progressive Familial Intrahepatic Cholestasis | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
No intervention recorded.
Design
Arms and outcomes
Arms (0)
[]Primary outcomes (1)
- measure
- Mutation classification in PFIC genes in patients with CCLDs
- timeFrame
- 12 months
- description
- Estimate the percentage of pathological mutations, probably pathological, variants to uncertain significance, probably benign, benign in PFIC genes in subjects with CCLDs
Secondary outcomes (2)
- measure
- Clinical Outcomes in PFIC Gene Mutation Carriers
- timeFrame
- 12 months
- description
- Percentage of patients with PFIC gene mutations affected by CCLDs, HBCs, BRIC, LPAC, ICP, DIC, advanced fibrosis, and/or neonatal jaundice
- measure
- Histological Patterns of Familial Intrahepatic Cholestasis in PFIC Gene Mutation Carriers
- timeFrame
- 12 months
- description
- Percentages of patients with PFIC genes who have a histological pattern compatible with familial intrahepatic cholestasis.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
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
References
Publications (0)
Data not yet available
No reference posted for this study.