New study aims to uncover hidden clues in rare liver disease
NCT ID NCT07639996
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study follows 45 adults with alpha-1 antitrypsin deficiency (a genetic condition that can cause liver damage) to learn how the disease progresses. Researchers will analyze stored blood and liver tissue samples to find biomarkers and understand the molecular pathways involved. The goal is to improve monitoring and eventually guide future treatments.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this could identify blood markers to better predict and monitor liver disease in people with alpha-1 antitrypsin deficiency.
- What could go wrong
- This is an observational study, not a treatment trial. It will not directly test any therapy, and results may take years to translate into clinical practice.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 45 people
The number the study aims to enrol. It can still change while the study runs.
- Expected to start
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Oct 2026
An estimate. Start dates often move.
- Expected to finish
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Sep 2028
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
* Adult patients (≥18 years) with genetically confirmed alpha-1 antitrypsin deficiency (Pi\*ZZ genotype). * Availability of longitudinal clinical follow-up data (minimum 5 years) within the AATD consortium. * At least one documented liver assessment including liver stiffness measurement (LSM) and serum-based fibrosis markers. * Availability of stored serum samples for proteomic analysis. * For translational analyses: availability of liver tissue samples (pediatric or adult) and/or induced pluripotent stem cell (iPSC)-derived hepatocyte-like cells.
- Ages
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18 years and older
- Sex
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Anyone
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: * Adult patients (≥18 years) with genetically confirmed alpha-1 antitrypsin deficiency (Pi\*ZZ genotype). * Availability of longitudinal clinical follow-up data (minimum 5 years) within the AATD consortium. * At least one documented liver assessment including liver stiffness measurement (LSM) and serum-based fibrosis markers. * Availability of stored serum samples for proteomic analysis. * For translational analyses: availability of liver tissue samples (pediatric or adult) and/or induced pluripotent stem cell (iPSC)-derived hepatocyte-like cells. Exclusion Criteria: * Presence of other chronic liver diseases (e.g., viral hepatitis, autoimmune hepatitis) that may confound fibrosis assessment. * History of liver transplantation prior to study inclusion. * Incomplete clinical, laboratory, or follow-up data. * Poor-quality or insufficient biological samples for proteomic or molecular analyses. * Patients lost to follow-up or with unreliable longitudinal data
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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 official record
The full official record for this study. This one lists no contact details, but it is the first place any would appear.
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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.
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