Prevalence of Alpha-1 Antitrypsin Deficiency in Non-Cirrhotic Liver Cancer
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: multiplex digital PCR.
- Who it may be relevant to
- Registry conditions: Retrospective Cohort of Patients Diagnosed With HCC on Non-Cirrhotic Liver. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Prevalence of Alpha-1 Antitrypsin Deficiency in a Cohort of Hepatocellular Carcinoma on Non-Cirrhotic Liver Without Identified Etiologies
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
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
Interventions
- Other multiplex digital PCR
multiplex digital PCR
Primary outcome measures
- Prevalence of Alpha-1 Antitrypsin Deficiency [Time frame: 1 year]
Secondary outcome measures (1)
- 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]
Eligibility criteria
Inclusion criteria
- Adult patients (≥18 years of age).
- Histopathologically confirmed diagnosis of hepatocellular carcinoma (HCC).
- Normal liver or chronic liver disease with minimal to moderate fibrosis in non-tumoral tissue.
- Signed informed consent obtained prior to participation.
- 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
- Minor patients (<18 years of age).
- HCC diagnosis not established according to standard histopathological criteria.
- Liver with chronic liver disease showing advanced fibrosis in non-tumoral tissue.
- No signed informed consent prior to participation.
- 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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 1 center
- CHU Bordeaux — Bordeaux
Publications
- Beaufrere A, Leon C, Decreaker M, Possenti L, Evain M, Coilly A, Schneider CV, Feurer Z, Odou MF, Balduyck M, Payance A, Schneider KM, Bioulac P, Blanc JF, Le Bail B, Guettier C, Amintas S, Bouchecareilh M. Alpha-1 Antitrypsin Deficiency Alleles in Non-Cirrhotic Hepatocellular Carcinoma: Insights from a Multicenter French Cohort. J Clin Exp Hepatol. 2026 Jul-Aug;16(4):103545. doi: 10.1016/j.jceh.2 PMID 42064227
Identifiers
NCT: NCT07145385 · CHUBX 2024/43