Alpha-1 Antitrypsin DeficiencyNCT07898553
AATD-Liver Scan Study
An observational study of Alpha-1 Antitrypsin Deficiency and AATD, run by Alpha-1 Foundation at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Alpha-1 Antitrypsin Deficiency, AATD, Alpha-1 Protease Inhibitor Deficiency
- How many people
- 1,000 participants
- Where
- 1 siteUnited States
- Study dates
- 27 Jan 2026to 1 Jan 2030
- How long will I take part?
- 1 Day
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: 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
Who may be able to join
- Diagnosis of Alpha1 or a mutation in SERPINA1
- Enrollment in the Alpha-1 Research Registry
- Willingness to provide informed consent
- Aged 18 years and older
Who cannot join
- Inability to undergo VCTE (unable to lie flat for 10 minutes)
- Pregnancy (self-reported)
- Ascites (self-reported)
- Previous FibroScan in the last 365 days
- Previous liver transplant
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
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.
Read the detailed description
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.
- Conditions
- Alpha-1 Antitrypsin Deficiency, AATD, Alpha-1 Protease Inhibitor Deficiency, Alpha-1 AT Deficiency, Alpha-1 Antitrypsin Deficiency (AATD)
- Keywords
- Alpha-1, AATD, FibroScan
- Medical subject headings
- alpha 1-Antitrypsin Deficiency, alpha-1-Antitrypsin Deficiency, Autosomal Recessive
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Alpha-1 Research Registry Participants | Patients who have Alpha-1 Antitrypsin Deficiency who also enroll in the Alpha-1 Research Registry |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Oct 2026
- Study start27 Jan 2026
- Primary completion1 Jan 2030 (estimated)
- Study completion1 Jan 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Alpha-1 Antitrypsin DeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
- Target duration
- 1 Day
Sponsor and investigators
- Lead sponsor
- Alpha-1 Foundation
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Jeanine D'Armiento, MD, PhD, Principal investigator, Alpha-1 FoundationArpan Mohanty, MD, Principal investigator, Boston University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07898553
- Sponsor's protocol ID
- 120190446
- Status last verified
- Oct 2026
- First submitted
- 18 Aug 2026
- Last updated
- 27 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: De-identified data only may be shared with other researchers
Publications
Loomba R, Clark VC, Mandorfer M, Miravitlles M, Brantly M, Karpen SJ, Krag A, Kwo PY, Rockey DC, Russo MW, Sanchez AJ, Santarella S, Sharpton SR, Strange C, Teckman JH, Turner AM, Vargas HE, Strnad P. Multi-Society Expert Panel Consensus Guidance Regarding Clinical Assessment and Clinical Trial Endpoints in Adults With Alpha-1 Antitrypsin Deficiency-Associated Liver Disease. Gastroenterology. 2026 Apr;170(4):829-842. doi: 10.1053/j.gastro.2025.12.012. Epub 2025 Dec 11.
PubMed 41390004Tejwani V, Stoller JK. The spectrum of clinical sequelae associated with alpha-1 antitrypsin deficiency. Ther Adv Chronic Dis. 2021 Jul 29;12_suppl:2040622321995691. doi: 10.1177/2040622321995691. eCollection 2021.
PubMed 34408829Patel D, McAllister SL, Teckman JH. Alpha-1 antitrypsin deficiency liver disease. Transl Gastroenterol Hepatol. 2021 Apr 5;6:23. doi: 10.21037/tgh.2020.02.23. eCollection 2021.
PubMed 33824927
Study at a glance
From the registry record, last updated by the sponsor on 27 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- AATD-Liver Scan Study
- ClinicalTrials.gov ID
- NCT07898553
- Acronym / sponsor ID
- 120190446
- Conditions
- Alpha-1 Antitrypsin Deficiency, AATD, Alpha-1 Protease Inhibitor Deficiency, Alpha-1 AT Deficiency, Alpha-1 Antitrypsin Deficiency (AATD)
- Keywords
- Alpha-1, AATD, FibroScan
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Alpha-1 FoundationUniversity, hospital or other
- Study start
- 27 Jan 2026 (actual)
- Primary completion
- 1 Jan 2030 (estimated)
- Study completion
- 1 Jan 2030 (estimated)
- First posted
- 27 Oct 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 1 Day
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Alpha-1 Research Registry Participants | – | –Patients who have Alpha-1 Antitrypsin Deficiency who also enroll in the Alpha-1 Research Registry |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- 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
Key inclusion criteria (4 listed)
- Diagnosis of Alpha1 or a mutation in SERPINA1
- Enrollment in the Alpha-1 Research Registry
- Willingness to provide informed consent
- Aged 18 years and older
Key exclusion criteria (5 listed)
- Inability to undergo VCTE (unable to lie flat for 10 minutes)
- Pregnancy (self-reported)
- Ascites (self-reported)
- Previous FibroScan in the last 365 days
- Previous liver transplant
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To evaluate the prevalence of elevated liver stiffness among homozygous and heterozygous individuals who carry mutations in the SERPINA1 gene.
Time frame: Baseline
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).
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Oct 2026.
- Background: PubMed 41390004Loomba R, Clark VC, Mandorfer M, Miravitlles M, Brantly M, Karpen SJ, Krag A, Kwo PY, Rockey DC, Russo MW, Sanchez AJ, Santarella S, Sharpton SR, Strange C, Teckman JH, Turner AM, Vargas HE, Strnad P. Multi-Society Expert Panel Consensus Guidance Regarding Clinical Assessment and Clinical Trial Endpoints in Adults With Alpha-1 Antitrypsin Deficiency-Associated Liver Disease. Gastroenterology. 2026 Apr;170(4):829-842. doi: 10.1053/j.gastro.2025.12.012. Epub 2025 Dec 11.
- Background: PubMed 34408829Tejwani V, Stoller JK. The spectrum of clinical sequelae associated with alpha-1 antitrypsin deficiency. Ther Adv Chronic Dis. 2021 Jul 29;12_suppl:2040622321995691. doi: 10.1177/2040622321995691. eCollection 2021.
- Background: PubMed 33824927Patel D, McAllister SL, Teckman JH. Alpha-1 antitrypsin deficiency liver disease. Transl Gastroenterol Hepatol. 2021 Apr 5;6:23. doi: 10.21037/tgh.2020.02.23. eCollection 2021.
- Individual participant dataSharing planned: Yes. De-identified data only may be shared with other researchers
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Jeanine D'Armiento, MD, PhD principal investigator
Alpha-1 Foundation
Arpan Mohanty, MD principal investigator
Boston University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Alpha-1 Antitrypsin Deficiency and AATD, run by Alpha-1 Foundation at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 27 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To evaluate the prevalence of elevated liver stiffness among homozygous and heterozygous individuals who carry mutations in the SERPINA1 gene. (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07898553, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Oct 2026.