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

Recruiting now

Conditions studied: Alpha1-Antitrypsin Deficiency

In brief

The liver produces a protein called alpha-1 antitrypsin (AAT). AAT is normally released into the bloodstream. In some people, the liver makes an abnormal version of AAT, called Z-AAT. Z-AAT builds up in liver cells and also leads to low blood levels of AAT (called Alpha-1 Antitrypsin Deficiency or AATD). Over time, this build up leads to different stages of liver problems, if not treated. This is called natural history of AATD. The main aim of this study is to learn about liver problems caused by AATD in adults when not treated over 4 to 8 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 care, and describe how the AATD also affects an 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 complete questionnaires (called patient-reported outcomes or PROs).

Key facts

Study ID

NCT06512454

Run by

Takeda

People needed

500

Starts

2024-09-25

Expected to finish

2031-12-31

Last updated by the study team

2026-07-24

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Participants who meet all the following criteria will be included in the study.
• Cohorts 1 and 2:
• Willing to provide written informed consent to participate in the study.
• >=18 years of age at enrollment in this study.
• Participants with documented diagnosis of AATD, meeting the following criteria:
• Cohort 1 (AATD-Pi*ZZ genotype/phenotype).
• Pi*ZZ genotype as documented from rapid genetic assay, sequencing, or polymerase chain reaction (PCR), or Pi*ZZ phenotype as documented from iso-electric focusing (IEF) electrophoresis.
• Cohort 2 (AATD-Pi*SZ genotype/phenotype with liver disease manifestation).
• Pi*SZ genotype as documented from rapid genetic assay, sequencing, or PCR, or Pi*SZ phenotype as documented from IEF electrophoresis, and
• Moderate-advanced or severe liver disease manifestation as defined by either liver biopsy or surrogate laboratory or imaging measures.

You may not qualify if…

• Participants who meet any following criteria will be excluded from the study.
• Documented AATD genotype/phenotype other than Pi*ZZ or Pi*SZ.
• History of liver transplant.
• No results for either biopsies, magnetic resonance elastography (MRE), FibroScan (vibration controlled transient elastography [VCTE]), or Aspartate aminotransferase to platelet ratio index (APRI) in the 24 months prior to the index/enrollment date and has none of these tests ordered during the index period (i.e., index date +90 days).
• Participants with prior participation in an interventional clinical trial evaluating liver or lung disease, or who have received an investigational AATD-directed therapy under a compassionate use program, will be excluded if they do not present one of the following:
• A minimum washout period of 6 months has elapsed since the last dose of the investigational product.
• A history of having received placebo in prior interventional trials (to be evaluated on a case-by-case basis).

Where it is running

• University of Florida — Gainesville, Florida, United States (enrolling)
• University of South Carolina — Charleston, South Carolina, United States (enrolling)
• Vanderbilt University Medical Center — Nashville, Tennessee, United States (enrolling)
• Vienna General Hospital (AKH Wien) — Vienna, Austria (enrolling)
• Universitätsklinikum Aachen — Aachen, Germany (enrolling)
• Beaumont Hospital — Dublin, Ireland (enrolling)
• Hospital Universitari Vall d'Hebron — Barcelona, Spain (enrolling)
• Queen Elizabeth Hospital Birmingham — Birmingham, United Kingdom (enrolling)

Full record on ClinicalTrials.gov

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