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.