Understanding liver problems in adults with Alpha-1 Antitrypsin Deficiency

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to investigate the natural history of liver problems associated with Alpha-1 Antitrypsin Deficiency (AATD) in adults over a five-year period. It will collect data on participants' medical histories, including the onset of AATD and related liver or lung issues. Participants will complete annual questionnaires to report their health outcomes, which will help identify predictors of disease progression and current diagnostic practices in clinical settings.

Why it matters

Who can join: the full rules

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 to participate in the study.
2. \>=18 years of age at enrollment in this study.
3. Participants with documented diagnosis of AATD, meeting the following criteria:

   1. 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.
   2. 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.

Exclusion Criteria:

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

1. Documented AATD genotype/phenotype other than Pi\*ZZ or Pi\*SZ.
2. History of liver transplant.
3. 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).
4. 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's running

• University of Florida
  Gainesville, Florida, United States Recruiting
• University of South Carolina
  Charleston, South Carolina, United States Recruiting
• Vanderbilt University Medical Center
  Nashville, Tennessee, United States Recruiting
• Vienna General Hospital (AKH Wien)
  Vienna, Austria Recruiting
• Universitätsklinikum Aachen
  Aachen, Germany Recruiting
• Beaumont Hospital
  Dublin, Ireland Recruiting

Study contacts

• Study coordinator: Takeda Contact
• Email: medinfoUS@takeda.com
• Phone: +1-877-825-3327

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Testing CE1226 doses to slow lung disease in adults with alpha-1 antitrypsin deficiency

  This trial tests two active doses of CE1226 to see if they slow lung density decline in adults with AAT deficiency and emphysema over 3 years compared with the standard 60 mg/kg dose.

  Recruiting at 2 sites Phase 4 CSL Behring · Aalborg and 1 other locations · NCT07326592

• Investigating the safety and effects of Fazirsiran for liver disease caused by Alpha-1 Antitrypsin Deficiency

  This study is testing a new medication called Fazirsiran to see if it can safely help people with liver disease caused by Alpha-1 Antitrypsin Deficiency by reducing a harmful protein.

  Recruiting at 40 sites Phase 3 Takeda · Phoenix, Arizona and 40 other locations · NCT06165341

• Evaluating the safety and effectiveness of fazirsiran for liver disease caused by an abnormal protein.

  This study is testing if a new drug called fazirsiran can help reduce liver scarring in people with Alpha-1 Antitrypsin Deficiency.

  Recruiting at 81 sites Phase 3 Takeda · Birmingham, Alabama and 88 other locations · NCT05677971

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.