Alpha-1 antitrypsin deficiency (AATD) is an inherited genetic disorder that is most commonly caused by a G-to-A point mutation in the SERPINA1 gene. This mutation results in the production of insufficient levels of circulating M-AAT protein, which protects the lungs from proteolytic enzymes, and aggregation of misfolded Z-AAT protein in hepatocytes. This leads to lung and liver disease. Individuals with AATD carry Z mutations on both SERPINA1 alleles; this is known as the PiZZ genotype.
Augmentation therapy via delivery of functional AAT protein is currently the only treatment option for AATD-associated lung disease and requires weekly intravenous infusions. There are no treatments for AATD-associated liver disease, besides liver transplantation.
Frequency:
There are approximately 200,000 patients in the United States and Europe who have Z mutations on both alleles.
Official title:
A Phase 1b/2a Open-label Single Ascending Doses (SAD) and Multiple Ascending Doses (MAD) Research Study to Evaluate Safety, Tolerability, Pharmacokinetics and Pharmacodynamics in Participants With AATD Pi*ZZ on WVE-006 (RestorAATion-2)
The purpose of this open-label study is to assess the safety, tolerability, pharmacodynamics, and pharmacokinetics of WVE-006 in participants with alpha-1 antitrypsin deficiency (AATD) following Period 1 single ascending dose (SAD) and Period 2 multiple ascending doses (MAD), respectively.
