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

Last updated: October 23, 2025
Sponsor: Takeda
Overall Status: Active - Recruiting

Phase

N/A

Condition

N/A

Treatment

No Intervention

Clinical Study ID

NCT06512454
TAK-999-5008
  • Ages > 18
  • All Genders

Study Summary

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).

Eligibility Criteria

Inclusion

Inclusion Criteria:

Participants who meet all the following criteria will be included in the study.

Cohorts 1 and 2:

  1. Willing to provide written informed consent or currently enrolled in an ongoingparticipating AATD patient registry that does not require reconsenting toparticipate in the study.

  2. >=18 years of age at enrollment in this study.

  3. Participants with documented diagnosis of AATD, meeting the following criteria:

  4. Cohort 1 (AATD-PiZZ genotype/phenotype). • PiZZ genotype as documented from rapid genetic assay, sequencing, orpolymerase chain reaction (PCR), or Pi*ZZ phenotype as documented fromiso-electric focusing (IEF) electrophoresis.

  5. Cohort 2 (AATD-Pi*SZ genotype/phenotype with liver disease manifestation).

  • PiSZ genotype as documented from rapid genetic assay, sequencing, or PCR,or PiSZ phenotype as documented from IEF electrophoresis, and
  • Moderate-advanced or severe liver disease manifestation as defined byeither liver biopsy or surrogate laboratory or imaging measures, asdetermined through:
  • Lab and imaging measures to define liver disease manifestation

Exclusion

Exclusion Criteria:

Participants who meet any following criteria will be excluded from the study.

  1. Documented AATD genotype/phenotype other than PiZZ or PiSZ.

  2. History of liver transplant.

  3. No results for either biopsies, magnetic resonance elastography (MRE), fibro scan (vibration controlled transient elastography [VCTE]), or Aspartate aminotransferaseto platelet ratio index (APRI) in the 24 months prior to the index/enrollment dateand has none of these tests ordered during the index period.

  4. Participants who had previously been treated or in an active participation in aninterventional trial studying liver or lung disease.

  5. Treatment with liver directed AATD investigational therapy as part of acompassionate use request.

Study Design

Total Participants: 500
Treatment Group(s): 1
Primary Treatment: No Intervention
Phase:
Study Start date:
September 25, 2024
Estimated Completion Date:
April 06, 2032

Connect with a study center

  • Universitätsklinikum Aachen AöR

    Aachen, North Rhine-Westphalia 52074
    Germany

    Site Not Available

  • Universitätsklinikum Aachen AöR

    Aachen 3247449, North Rhine-Westphalia 2861876 52074
    Germany

    Active - Recruiting

  • University of Florida

    Gainesville, Florida 32611
    United States

    Site Not Available

  • University of Florida

    Gainesville 4156404, Florida 4155751 32611
    United States

    Active - Recruiting

Map preview placeholder

Not the study for you?

Let us help you find the best match. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.