500 adults to help unravel mysteries of rare liver disease
NCT ID NCT06512454
First seen Jun 27, 2026 · Last updated Jul 24, 2026 · Updated 1 time
Summary
This study follows 500 adults with alpha-1 antitrypsin deficiency (AATD) for up to 5 years to see how their liver disease progresses without any special treatment. Researchers will track changes in liver scarring, symptoms, and overall health using medical records and yearly questionnaires. The goal is to better predict who might get worse or better, and to improve how doctors monitor this condition in everyday care.
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Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 500 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Sep 2024
- Expected to finish
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Dec 2031
An estimate. End dates often move.
- Lead sponsor
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A company
The lead sponsor is a pharmaceutical, biotech, or medical-device company.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Participants who have already been diagnosed with AATD of genotype/phenotype Pi\*ZZ, with or without liver disease manifestation (F0-F4dc), or with genotype/phenotype of Pi\*SZ with moderate-advanced or severe liver disease manifestation (F2-F4dc).
- Ages
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18 years and older
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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).
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Genom att skicka in godkänner du våra Användarvillkor
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The study's own enquiry address
This study publishes an address for enquiries. See it below .
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The places running it
8 sites in 6 countries. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Show contact details
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Genom att skicka in godkänner du våra Användarvillkor
Study contacts
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Contact
Email: •••••@•••••
Locations
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Beaumont Hospital
RECRUITINGDublin, Dublin 9, Ireland
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Hospital Universitari Vall d'Hebron
RECRUITINGBarcelona, Spain
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Queen Elizabeth Hospital Birmingham
RECRUITINGBirmingham, B15 2GW, United Kingdom
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University of Florida
RECRUITINGGainesville, Florida, 32608, United States
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University of South Carolina
RECRUITINGCharleston, South Carolina, 29425, United States
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Universitätsklinikum Aachen
RECRUITINGAachen, 52074, Germany
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Vanderbilt University Medical Center
RECRUITINGNashville, Tennessee, 37212, United States
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Vienna General Hospital (AKH Wien)
RECRUITINGVienna, 1090, Austria
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