Actively Recruiting

Age: 18Years +
All Genders
ID06512454

Prospective Observational Study on the Natural History of Alpha-1 Antitrypsin Deficiency and Associated Liver Disease

Led by Takeda · Updated on 2025-10-24

500

Participants Needed

2

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are studying adults with Alpha-1 Antitrypsin Deficiency (AATD), a genetic condition that can cause liver problems, to understand how these liver issues develop and change over five years without treatment. The study also aims to identify factors that predict when liver disease may begin or improve, describe how the condition is diagnosed and managed in normal hospital care, and assess how AATD affects lung function in adults. Participants diagnosed with specific AATD types—either homozygous Pi*ZZ with mild or no liver disease, or heterozygous Pi*SZ with moderate to severe liver disease—will be followed. Data will be collected during routine care visits over the study period. No treatment is given as part of the study since it is observational, focusing on monitoring and collecting health data. During the study, participants will provide medical history including dates of diagnosis and liver or lung problems. They will complete yearly questionnaires about their health for up to five years. Researchers will track outcomes such as liver disease progression or regression, lung disease development, and mortality causes. The study helps improve understanding of AATD and its effects, with data collected through regular clinical care and patient reports.

CONDITIONS

Brief 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 a participating AATD patient registry without reconsenting
  • Age 18 years or older at enrollment
  • Documented diagnosis of Alpha-1 Antitrypsin Deficiency (AATD)
  • Cohort 1: Pi*ZZ genotype/phenotype confirmed by genetic assay or lab test
  • Cohort 2: Pi*SZ genotype/phenotype confirmed by genetic assay or lab test with moderate to severe liver disease confirmed by biopsy or lab/imaging measures
Not Eligible

You will not qualify if you...

  • AATD genotype/phenotype other than PiZZ or PiSZ
  • History of liver transplant
  • No recent biopsy, magnetic resonance elastography, fibro scan, or APRI test results within 24 months prior to enrollment and none ordered during enrollment
  • Previous treatment or active participation in interventional trials for liver or lung disease
  • Treatment with liver-directed AATD investigational therapy as compassionate use

AI-Screening

AI-Powered Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Long-term Monitoring

Duration - Up to 5 years

Participants who undergo routine care are observed to learn about the natural history of Alpha-1 Antitrypsin Deficiency and associated liver disease.

Visits occur per routine care during follow-up

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

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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