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

NCT ID: NCT07145385

Last Updated: 2026-01-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

71 participants

Study Classification

OBSERVATIONAL

Study Start Date

2026-01-31

Study Completion Date

2027-09-30

Brief Summary

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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

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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

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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Patients Diagnosed with HCC on Non-Cirrhotic Liver

Patients Diagnosed with HCC on Non-Cirrhotic Liver

multiplex digital PCR

Intervention Type OTHER

multiplex digital PCR

Interventions

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multiplex digital PCR

multiplex digital PCR

Intervention Type OTHER

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital, Bordeaux

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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CHU Bordeaux

Bordeaux, , France

Site Status

Countries

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France

Central Contacts

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Marie Decraecker, MD

Role: CONTACT

+335 57 65 64 38

Facility Contacts

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Marion Decraecker, MD

Role: primary

+335 57 65 64 38

Other Identifiers

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CHUBX 2024/43

Identifier Type: -

Identifier Source: org_study_id

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