NCT06892236

Brief Summary

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)

Trial Health

55
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
3

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Jan 2025

Geographic Reach
1 country

1 active site

Status
enrolling by invitation

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 15, 2025

Completed
1 month until next milestone

First Submitted

Initial submission to the registry

February 24, 2025

Completed
28 days until next milestone

First Posted

Study publicly available on registry

March 24, 2025

Completed
11 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 28, 2026

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 28, 2026

Completed
Last Updated

March 24, 2025

Status Verified

March 1, 2025

Enrollment Period

1.1 years

First QC Date

February 24, 2025

Last Update Submit

March 21, 2025

Conditions

Alpha1-antitrypsin Deficiency

Outcome Measures

Primary Outcomes (1)

  • Number of severe AATD patients included in the study

    24 months

Study Arms (1)

severe AATD patients

OTHER

blood samples from severe AATD patients to obtain iPSC cells

Genetic: iPSC generation

Interventions

iPSC generationGENETIC

Base editing

severe AATD patients

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • age ≥ 18 years at the time of signing the ICF
  • diagnosis of severe AATD (2 pathological variants)

You may not qualify if:

  • incapability to give informed consent
  • subject under augmentation therapy

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Fondazione IRCCS Policlinico San Matteo, Sc Pneumologia

Pavia, Pavia, 27100, Italy

Location

MeSH Terms

Conditions

alpha 1-Antitrypsin Deficiency

Condition Hierarchy (Ancestors)

Liver DiseasesDigestive System DiseasesLung DiseasesRespiratory Tract DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSubcutaneous EmphysemaEmphysemaPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
OTHER
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Researcher

Study Record Dates

First Submitted

February 24, 2025

First Posted

March 24, 2025

Study Start

January 15, 2025

Primary Completion

February 28, 2026

Study Completion

February 28, 2026

Last Updated

March 24, 2025

Record last verified: 2025-03

Locations

IT(1)