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Related Experiment Video

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Neurodegeneration in an Animal Model of Chronic Amyloid-beta Oligomer Infusion Is Counteracted by Antibody Treatment Infused with Osmotic Pumps

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Alpha1-antitrypsin deficiency.

James K Stoller¹, Loutfi S Aboussouan

¹Department of Pulmonary, Allergy, and Critical Care Medicine, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA. stollej@ccf.org

Lancet (London, England)

|June 28, 2005

Summary

Alpha1-antitrypsin deficiency (AATD) is a genetic condition causing liver and lung disease. Augmenting AAT levels with plasma-derived therapy may slow lung function decline in patients with AATD.

Area of Science:

Genetics and Pulmonary Medicine
Biochemistry and Molecular Biology

Background:

Alpha1-antitrypsin deficiency (AATD) is an inherited disorder affecting approximately 1 in 2000-5000 individuals.
Clinical manifestations include liver disease and early-onset emphysema, primarily due to reduced lung protection against neutrophil elastase.
The common Z allele mutation in the SERPINA 1 gene impairs alpha1-antitrypsin (AAT) serum levels by causing intracellular retention of AAT polymers in hepatocytes.

Purpose of the Study:

To evaluate the efficacy and safety of augmenting serum alpha1-antitrypsin levels in individuals with AATD.
To assess the impact of AAT augmentation therapy on lung function decline and other clinical outcomes.
To address the remaining uncertainties regarding the cost-effectiveness of this treatment.

Main Methods:

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Review of existing evidence on AAT augmentation therapy using purified alpha1-antitrypsin from pooled human plasma.
Analysis of studies assessing serum and epithelial-lining fluid AAT concentrations in response to treatment.
Evaluation of data on lung function, infection rates, and survival in treated patients.

Main Results:

AAT augmentation therapy raises serum and epithelial-lining fluid AAT concentrations above the protective threshold of 11 micromol/L.
Evidence indicates the treatment is safe and may slow the rate of lung function decline.
Potential benefits include reduced infection rates and enhanced survival, though cost-effectiveness remains a concern.

Conclusions:

Augmentation therapy with plasma-derived alpha1-antitrypsin is a specific treatment for AATD that addresses the underlying deficiency.
The therapy shows promise in mitigating lung damage and improving clinical outcomes in affected individuals.
Further research is needed to definitively establish the cost-effectiveness of long-term AAT augmentation therapy.