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

Part of paid clinical trials in Gainesville, Florida.

Sponsor
Takeda
Study ID
NCT06512454
Status
Recruiting
Apply to this trial

Conditions

  • Alpha1-Antitrypsin Deficiency

Eligibility Criteria

Sex
ALL
Age
18 Years - N/A
Healthy Volunteers
Not accepted

Interventions

  • No Intervention — OTHER
    This is an observational study.

Study Details

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 Dates

First listed
Jul 22, 2024
Start date
Sep 25, 2024
Status verified
Jul 2026
Primary completion
Dec 31, 2031
Completion
Dec 31, 2031

Study Design

Enrollment
500 participants (estimated)

Arms

  • Arm: Cohort 1: AATD-Pi*ZZ Genotype/Phenotype
    Participants who have been diagnosed with Alpha-1 Antitrypsin Deficiency homozygous ZZ (AATD-Pi\*ZZ) genotype/phenotype with or without liver disease manifestations (fibrosis- F0-F4dc) will be enrolled and data will be prospectively collected per routine care throughout the follow-up period.
  • Arm: Cohort 2: AATD-Pi*SZ Genotype/Phenotype
    Participants who have been diagnosed with alpha-1 antitrypsin deficiency heterozygous SZ (AATD-Pi\*SZ) genotype/phenotype with moderate-advanced or severe liver disease (F2-F4dc) manifestations will be enrolled and data will be prospectively collected per routine care throughout the follow-up period.

Primary Outcome Measure

Number of Participants With Liver Disease Progression [ Time Frame: Baseline up to 8 years ]

Central Contacts

Locations (3)

FacilityCityStateZIPSite coordinators
University of FloridaGainesvilleFlorida32608
Site Contact
[email protected]
Virginia Clark (PRINCIPAL_INVESTIGATOR)
University of South CarolinaCharlestonSouth Carolina29425
Site Contact
[email protected]
Charlie Strange (PRINCIPAL_INVESTIGATOR)
Vanderbilt University Medical CenterNashvilleTennessee37212
Site Contact
[email protected]
Suzanne Sharpton (PRINCIPAL_INVESTIGATOR)

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