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

Launched by FONDAZIONE IRCCS POLICLINICO SAN MATTEO DI PAVIA · Mar 21, 2025

Keywords

ClinConnect Summary

AAT is majorly produced in the hepatocytes therefore correction in the hepatocyte is a most promising approach. iHep cells as well as pluripotent stem cell or mesenchymal stem cell-derived hepatocyte-like cells provide potential cell sources for disease modeling, transplantation, and tissue engineering independent of donor organs.

However, all the studies reported in the literature, including the large drug library screening, are based on one or few AAT variant or at most few hiPSC cell lines derived from AATD patients. Moreover, only a subgroup of 10% of PI\*ZZ developed a clinically rele...

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Eligibility criteria

• Inclusion Criteria:
• • age ≥ 18 years at the time of signing the ICF
• • diagnosis of severe AATD (2 pathological variants)
• Exclusion Criteria:
• • incapability to give informed consent
• • subject under augmentation therapy