Exploring the link between genetic mutations and liver disease symptoms
Genotype-phenotype Relationship Between Adult Cryptogenic Cholestasis and Mutations in Genes Responsible for Progressive Familial Intrahepatic Cholestasis
This study is trying to see if certain genetic changes are linked to symptoms in adults with liver diseases to help find better treatments for them.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 300 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | IRCCS Azienda Ospedaliero-Universitaria di Bologna Academic / other |
| Locations | 2 sites (Bologna, Bologna and 1 other locations) |
| Trial ID | NCT06781242 on ClinicalTrials.gov |
What this trial studies
This observational study investigates the relationship between genetic mutations associated with progressive familial intrahepatic cholestasis (PFIC) and the clinical presentations of adults suffering from cholestatic liver diseases. By collecting retrospective data from multiple centers, the study aims to determine the prevalence of PFIC gene mutations and identify risk factors that may influence disease progression. The findings could lead to more personalized treatment options for patients with these liver conditions.
Who should consider this trial
Good fit: Ideal candidates for this study are adults aged 18 and older diagnosed with PFIC, cholestatic liver diseases, or hepatobiliary cancer.
Not a fit: Patients with another documented cause of chronic liver disease that explains their clinical symptoms may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide insights that lead to tailored treatment strategies for patients with cholestatic liver diseases.
How similar studies have performed: While this approach is focused on a specific genetic relationship, similar studies have shown promise in understanding genetic influences on liver diseases.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Bologna, Bologna and 1 other locations
- IRCCS - Azienda Ospedaliero-Universitaria di Bologna — Bologna, Bologna, Italy (Recruiting)
- Ospedale Civile Sant'Agostino Estense Baggiovara — Modena, Modena, Italy (Recruiting)
Study contacts
- Principal investigator: Giovanni Vitale, MD — IRCCS Azienda Ospedaliero-Universitaria di Bologna
- Study coordinator: Giovanni Vitale, MD
- Email: giovanni.vitale@aosp.bo.it
- Phone: 0512144187
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.