Alpha-1 antitrypsin deficiency

The homogenous genotyping test combines allele-specific tailed primers with SYBR-Green to facilitate fast and accurate detection of PI*S and PI*Z alleles of SERPINA1.

Findings from a phase 2b study demonstrate fazirsiran’s dose-dependent impact on Z-AAT concentrations and histological measures of liver disease in patients with AATD.

Compared to individuals with the PI*ZZ genotype, those with PI*SS had a lower risk of lung disease, increased lung function, and better quality of life.

Although AAT therapy was found to be well-tolerable, the infusions did not improve C-peptide AUC in patients with chronic pancreatitis undergoing TP-IAT.

A survey found individuals may avoid participating in AATD trials because a trial may require them to go off augmentation therapy.

Findings suggest patients with AATD with liver and/or lung disease face greater all-cause costs and healthcare resource utilization than those with AATD alone.

Using available literature, the review assesses our current understanding of AATD, emerging biomarkers, and the future of drug development.

Patients with AATD-associated lung disease on augmentation therapy participating in a health management program experienced negligible changes in self-perceived health status.

Patients with AATD had increased cardiovascular risk compared to non-AATD COPD and healthy controls, with results suggesting physiological tests may assess risk more accurately.

A Veterans Affairs study finds low alpha-1 antitrypsin phenotyping rates, indicating the need for improved healthcare provider education on AATD.