Alpha-1 antitrypsin deficiency

Read about hepatic FDA news, the voluntary withdrawal of obeticholic acid for PBC, new trial data for a potential AATD drug, and more.

WVE-006 drove production of M-AAT, which is protective of lung function, and reduced mutant Z-AAT, a cause of liver disease.

Meta-analysis results showed patients with ZZ AATD had a greater risk of liver disease and liver cancer than patients in comparator cohorts.

Proof-of-mechanism data from the phase 1b/2a study of WVE-006 represent the first-ever clinical demonstration of RNA editing in humans.

Findings from the prospective cohort study suggest the value of serum Z polymer levels as a non-invasive disease-specific biomarker in patients with homozygous ZZ AATD liver disease.

The Delphi survey collected opinions from members of the European Alpha-1 Research Collaboration to guide the diagnosis, treatment, and management of severe AATD.

Strnad explains how although moderate alcohol consumption is likely tolerable in most individuals with AATD, careful monitoring of liver-related parameters is still important.

Moderate alcohol consumption did not significantly impact liver-related parameters in patients with the Pi*MZ and Pi*ZZ genotypes of alpha-1 antitrypsin deficiency.

Strnad explains the need for noninvasive biomarkers in AATD liver disease and early research about circulating Z-polymer’s potential association with clinically relevant adverse outcomes.

Strnad explains how findings from the SEQUOIA study inform fazirsiran’s use in patients with AATD-associated liver disease and its further evaluation in future phase 3 trials.

Greater circulating Z-polymer levels were associated with an increased risk of adverse clinical outcomes in adults with AATD and the PiZZ genotype.

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.