NCT07145385

Prevalence of Alpha-1 Antitrypsin Deficiency in Non-Cirrhotic Liver Cancer

Prevalence of Alpha-1 Antitrypsin Deficiency in a Cohort of Hepatocellular Carcinoma on Non-Cirrhotic Liver Without Identified Etiologies

• Status: Not Yet Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 71 (estimated)
• Sponsor: University Hospital, Bordeaux · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

Patients with Alpha-1 Antitrypsin Deficiency (AATD), a rare genetic disease, have a 20- to 50-fold higher risk of developing primary liver cancer (PLC), such as hepatocellular carcinoma (HCC), in both cirrhotic and non-cirrhotic livers, highlighting AATD as a potential oncogenic factor. Therefore, our aim is to evaluate the association between AATD and HCC in patients with a non-cirrhotic liver and no known predisposition

Detailed description

The two most common pathogenic AATD variants, PiS and PiZ, will be identified using the multiplex digital PCR (dPCR) system in a French cohort of 71 patients who developed HCC in a non-cirrhotic liver without known risk factors for HCC

Conditions

• Retrospective Cohort of Patients Diagnosed With HCC on Non-Cirrhotic Liver

Interventions

Type	Name	Description
OTHER	multiplex digital PCR	multiplex digital PCR

Timeline

• Start date: 2026-01-01
• Primary completion: 2027-09-01
• Completion: 2027-09-01
• First posted: 2025-08-28
• Last updated: 2026-01-05

Locations

1 site across 1 country: France