Actively Recruiting

Age: 18Years +
All Genders
NCT06512454

A Study in Adults to Learn About Inherited Alpha-1 Antitrypsin Deficiency (AATD) and AATD Related Liver Problems

Led by Takeda · Updated on 2025-10-24

500

Participants Needed

2

Research Sites

392 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

The main aim of this study is to learn about liver problems caused by the lack of alpha-1 antitrypsin (called Alpha-1 Antitrypsin Deficiency or AATD) in adults when not treated (this is called the natural history of a condition) over 5 years. Other aims are to learn what can predict the AATD-liver condition starting and getting better or worse, describe how this condition is currently being diagnosed and watched in normal hospital care, and describe how the AATD also affects and adult's lung function. Data in this study will be collected to include medical history of a participant, including the date AATD was first identified and/or the date on which the first AATD-related liver or lung problems were diagnosed. At study start and then every year until study end, participants will be asked to completed questionnaires (called patient-reported outcomes or PRO).

CONDITIONS

Official Title

A Study in Adults to Learn About Inherited Alpha-1 Antitrypsin Deficiency (AATD) and AATD Related Liver Problems

Who Can Participate

Age: 18Years +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Willing to provide written informed consent or currently enrolled in an ongoing participating AATD patient registry that does not require reconsenting
  • 18 years of age or older at enrollment
  • Documented diagnosis of AATD meeting one of the following:
    • Pi*ZZ genotype/phenotype confirmed by genetic assay, sequencing, PCR, or iso-electric focusing electrophoresis
    • Pi*SZ genotype/phenotype confirmed by genetic assay, sequencing, PCR, or iso-electric focusing electrophoresis with moderate-advanced or severe liver disease shown by biopsy or laboratory/imaging tests
Not Eligible

You will not qualify if you...

  • Documented AATD genotype/phenotype other than PiZZ or PiSZ
  • History of liver transplant
  • No biopsy, magnetic resonance elastography (MRE), fibro scan (VCTE), or APRI results within 24 months before enrollment and none ordered during the enrollment period
  • Previous treatment or active participation in an interventional trial for liver or lung disease
  • Treatment with liver-directed AATD investigational therapy as part of compassionate use

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 2 locations

1

University of Florida

Gainesville, Florida, United States, 32611

Actively Recruiting

2

Universitätsklinikum Aachen AöR

Aachen, North Rhine-Westphalia, Germany, 52074

Actively Recruiting

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Research Team

T

Takeda Contact

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

2

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