Evaluation of the Efficacy and Safety of VX-864 in Subjects With the PiZZ Genotype
A Phase 2, Open-label Study Evaluating Efficacy and Safety of VX-864 in Subjects With Alpha-1 Antitrypsin Deficiency Who Have the PiZZ Genotype, Over 48 Weeks
Vertex Pharmaceuticals Incorporated
Alpha-1 antitrypsin deficiency (AATD) is an inheritable genetic disorder involving a protein folding defect causing low circulating levels of alpha-1 antitrypsin (AAT). AAT is produced primarily in the liver and secreted into the blood to the lungs to protect the lungs from damage.
A change in the AAT protein results in misfolding of the protein known as the Z-AAT protein (PiZZ) the Z protein produced is abnormal and gets trapped in the liver and cannot reach the circulation. The deficiency of circulating AAT can result in the increase risk of development of chronic lung condition. The build up of PIZZ genotype may cause liver damage.
The purpose of this study is to investigate the effect and safety of VX-864 (investigational study drug) on blood levels of functional AAT in individuals with the PiZZ genotype.
Approximately 20 subjects with the PiZZ genotype will be enrolled: Groups A and B will enroll approximately 10 subjects each. All subjects will receive VX-864 500 mg every 12 hours (q12h) for 48 weeks. Group A subjects will not have a liver biopsy. Subjects in Group B will have 2 liver biopsies performed over the course of the study.
Wales REC 2
Date of REC Opinion
21 Jun 2023
Further Information Favourable Opinion