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NCT06892236

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

ENROLLING BY INVITATION NA Last updated 24 March 2025
What this trial tests

NA trial testing iPSC generation in Alpha1-antitrypsin Deficiency in 3 participants. Enrolling by invitation.

Timeline
15 January 2025
Primary endpoint
28 February 2026
28 February 2026

Quick facts

Lead sponsorFondazione IRCCS Policlinico San Matteo di Pavia
PhaseNA
StatusENROLLING BY INVITATION
Study typeINTERVENTIONAL
Allocationna
Designsingle group
Maskingnone
Primary purposeother
Enrollment3
Start date15 January 2025
Primary completion28 February 2026
Estimated completion28 February 2026
Sites1 location across Italy

Drugs / interventions tested

Conditions studied

Sponsor

Fondazione IRCCS Policlinico San Matteo di Pavia

Who can join

18 and older, any sex, with Alpha1-antitrypsin Deficiency. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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)

Publications & conference data

1 peer-reviewed publication reference this trial (live from Europe PMC):

  1. Application of stem cells in the precise diagnosis and treatment of liver diseases.
    Wang YX, Ren YN, Zhang SS, Sun S, et al · · 2025 · PMID 41479645 · DOI 10.3748/wjg.v31.i46.114415

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