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

N/ANot Yet RecruitingNCT07145385

University Hospital, Bordeaux71 enrolled

Overview

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

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

Study Type

OBSERVATIONAL

Enrollment

Conditions

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

Interventions

multiplex digital PCROTHER

multiplex digital PCR

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: 1. Adult patients (≥18 years of age). 2. Histopathologically confirmed diagnosis of hepatocellular carcinoma (HCC). 3. Normal liver or chronic liver disease with minimal to moderate fibrosis in non-tumoral tissue. 4. Signed informed consent obtained prior to participation. 5. No other known etiology or risk factors for liver disease, including: * Alcohol-related liver disease * Metabolic-associated steatohepatitis (MASH) * Viral hepatitis infections * Hemochromatosis Exclusion Criteria: 1. Minor patients (\<18 years of age). 2. HCC diagnosis not established according to standard histopathological criteria. 3. Liver with chronic liver disease showing advanced fibrosis in non-tumoral tissue. 4. No signed informed consent prior to participation. 5. Presence of other identified etiologies or known risk factors for liver disease, including: * Alcohol-related liver disease * Metabolic-associated steatohepatitis (MASH) * Viral hepatitis infections * Hemochromatosi

Locations (1)

CHU Bordeaux

Bordeaux, France

Outcomes

Primary Outcomes

Prevalence of Alpha-1 Antitrypsin Deficiency

Prevalence of Alpha-1 Antitrypsin Deficiency in a Retrospective Cohort of Patients Diagnosed with HCC on Non-Cirrhotic Liver up to 1 year

Time frame: 1 year

Secondary Outcomes

Correlation of clinico-biological parameters-including survival (years), sex, BMI, fibrosis stage, mode of diagnosis, number of tumors, tumor size (mm), metastasis, recurrence, and Edmondson score-according to AAT genotype

Time frame: 1 year

Central Contacts

Marie Decraecker, MD

CONTACT

+335 57 65 64 38 marie.decraecker@chu-bordeaux.fr

Data from ClinicalTrials.gov

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