Natural Course and Molecular Basis of Alpha 1- Antitrypsin Deficiency-associated Liver Disease.
Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorAssiut University
About this trial
* 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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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.
Disqualifiers
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.
Trial population
* 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.
Trial design
Design model
Cohort
Time perspective
Cross-sectional
Treatments tested in this trial
Multi-omic spatial analysis
Diagnostic testconduction of spatial multi-omic analyses comparing pediatric and adult liver tissues. This will include proteomic and transcriptomic mapping to understand how AAT accumulation and ductular reactions differ between the two forms.
Treatment groups
No treatment groups listed
Trial outcomes
Primary outcomes
1
Search for serum-based disease biomarkers and the associated molecular pathways
Time frame
Eight months of performing serum proteomics to identify biomarkers that reflect liver disease severity and predict poor outcomesSecondary outcomes
1
Multi-omic spatial analysis of human AATD-LD.
Time frame
Eight months of conduction of spatial multi-omic analyses comparing pediatric and adult liver tissues. This will include proteomic and transcriptomic mapping to understand how AAT accumulation and ductular reactions differ between the two forms.Locations
Sponsors and contacts
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Source ClinicalTrials.gov
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