Preparation of IPSC for Cell Gene Editing for the Treatment of AATD

Alpha 1-antitrypsin (AAT) deficiency is a genetic condition that leads to lung and/or liver diseases; current treatment of weekly augmentation of AAT addresses only lung diseases with moderate efficacy. Novel treatments based on gene editing can restore physiological levels of AAT and address lung and liver disease. The aim is to generate induced pluripotent stem cells (iPSC) from blood and urine of patients with different severe Alpha1-antitrypsin deficiency (AATD) genotypes. Further, the iPSC will be differentiated into hepatocytes (iHep). Since hepatocytes are the main producers of AAT, the iHep will be used to test different approaches of gene editing to correct various mutations. Gene editing will be conducted at University of Bern (Switzerland)

NCT Number	NCT06892236
Lead Sponsor	Fondazione IRCCS Policlinico San Matteo di Pavia Collaborators: University of Bern
Conditions	Alpha1-antitrypsin Deficiency
Enrollment	3 participants
Start Date	2025-01-15
Primary Completion	2026-02-28 (estimated)
Study Completion	2026-02-28 (estimated)
Updated on ClinicalTrials.gov	2025-03-24