Alpha-1 antitrypsin deficiency

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.

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 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.

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.

Strnad explains key findings from research presented at the EASL Congress regarding noninvasive testing and biomarkers in AATD-LD based on phase 2 fazirsiran clinical trials.

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.