Natural Course and Molecular Basis of Alpha 1- Antitrypsin Deficiency-associated Liver Disease.

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Conditions studied: Alpha 1-antitrypsin Deficiency (AATD)

In brief

* To define the course of AATD-associated liver disease. * To use the obtained samples for biomedical research which includes: 1. Search for serum-based disease biomarkers and the associated molecular pathways. 2. Multi-omic spatial analysis of human AATD-LD.

Key facts

Study ID

NCT07639996

Run by

Assiut University

People needed

45

Starts

2026-10-01

Expected to finish

2028-09-30

Last updated by the study team

2026-06-10

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Adult patients (≥18 years) with genetically confirmed alpha-1 antitrypsin deficiency (Pi*ZZ genotype).
• Availability of longitudinal clinical follow-up data (minimum 5 years) within the AATD consortium.
• At least one documented liver assessment including liver stiffness measurement (LSM) and serum-based fibrosis markers.
• Availability of stored serum samples for proteomic analysis.
• For translational analyses: availability of liver tissue samples (pediatric or adult) and/or induced pluripotent stem cell (iPSC)-derived hepatocyte-like cells.

You may not qualify if…

• Presence of other chronic liver diseases (e.g., viral hepatitis, autoimmune hepatitis) that may confound fibrosis assessment.
• History of liver transplantation prior to study inclusion.
• Incomplete clinical, laboratory, or follow-up data.
• Poor-quality or insufficient biological samples for proteomic or molecular analyses.
• Patients lost to follow-up or with unreliable longitudinal data

Full record on ClinicalTrials.gov

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