An observational study in Alpha-1 Antitrypsin Deficiency, AATD and Alpha-1 Protease Inhibitor Deficiency, sponsored by Alpha-1 Foundation. Enrolling by invitation at 1 site in United States. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-10-27.
Sponsored by Alpha-1 Foundation · Observational
The goal of this study is to provide liver stiffness screenings (FibroScans) to patients with Alpha-1 Antitrypsin Deficiency for the following purposes:
To evaluate the prevalence of elevated liver stiffness among homozygous and heterozygous individuals who carry mutations in the SERPINA1 gene.
To assess whether the coexistence of metabolic or environmental cofactors, such as obesity, diabetes, alcohol use, or hepatic steatosis, modifies the risk of liver fibrosis among those with alpha 1 antitrypsin deficiency.
Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder caused by pathogenic variants in the SERPINA1 gene, resulting in reduced circulating alpha-1 antitrypsin (AAT) levels and accumulation of misfolded AAT protein within hepatocytes. The homozygous PiZZ genotype confers the highest risk for chronic liver disease, cirrhosis, and hepatocellular carcinoma, while heterozygous carriers have a modestly increased risk, especially when metabolic or environmental cofactors such as obesity, diabetes, alcohol use, or hepatic steatosis are present. Liver disease in AATD is often clinically silent, and routine laboratory tests or imaging are poor predictors of early fibrosis. Vibration-controlled transient elastography (VCTE; FibroScan) is a non-invasive, validated technique that measures liver stiffness as a surrogate for hepatic fibrosis. Early detection of significant fibrosis may allow for timely lifestyle modification, surveillance, and participation in clinical trials.
Participants enrolled in or eligible for the Alpha-1 Research Registry will be recruited at Alpha-1 Foundation events such as Education Days and the Annual National Conference. This research is an ancillary study of the Alpha-1 Research Registry, and all study results will be stored within the registry database. After informed consent, participants will undergo:
VCTE (FibroScan): Measurement of liver stiffness and controlled attenuation parameter (CAP).
Anthropometrics: Height, weight, waist, and hip circumference using standardized methods.
Questionnaire: A 3-5-minute survey on fasting status, physical activity (Stanford Brief Activity Survey), alcohol use (AUDIT-C), metabolic health history (prediabetes, diabetes, hypertension, and hyperlipidemia), and other pertinent AATD health-related questions.
Participants will receive results on site and have an opportunity to have results discussed with a healthcare professional; those with liver stiffness ≥8 kPa will be advised to seek hepatology follow-up.
Each study visit will last approximately 20-30 minutes. Participants may be invited to repeat the assessment while enrolled in the Registry every year (no more than once per year). Participation is voluntary, and individuals may withdraw at any time without penalty, consistent with the Alpha-1 Research Registry protocol.
142 studies on the registry are indexed under alpha 1-Antitrypsin Deficiency; 32 are open to participants now.
This study's planned enrollment of 1,000 is above the median of 160 across 46 observational studies indexed under alpha 1-Antitrypsin Deficiency.
Browse alpha 1-Antitrypsin Deficiency studies →Alpha-1 Foundation is the lead sponsor of 3 studies on the registry; 2 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients with Alpha-1 Antitrypsin Deficiency who are enrolled in the Alpha-1 Research Registry and who are attending an Alpha-1 Foundation Education Day or National Conference event
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Patients who have Alpha-1 Antitrypsin Deficiency who also enroll in the Alpha-1 Research Registry
To evaluate the prevalence of elevated liver stiffness among homozygous and heterozygous individuals who carry mutations in the SERPINA1 gene.
Participants enrolled in or eligible for the Alpha-1 Research Registry will be recruited at Alpha-1 Foundation events such as Education Days and the Annual National Conference. This research is an ancillary study of the Alpha-1 Research Registry, and all study results will be stored within the registry database. After informed consent, participants will undergo: VCTE (FibroScan): Measurement of liver stiffness and controlled attenuation parameter (CAP).
Time frame: Baseline
Plan to share: Yes — De-identified data only may be shared with other researchers
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
No contact was published for this record. The registry link below has the sponsor’s details.
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