RecruitingPhase 1 / Phase 2NCT07227207
Respiratory
Alpha-1 Antitrypsin Deficiency
Also known as AATD, Alpha-1, AAT deficiency, Pi*ZZ genotype
Alpha-1 antitrypsin deficiency is caused by mutations in SERPINA1, most commonly the Z allele (Pi*ZZ genotype). The misfolded AAT protein accumulates in liver cells and cannot reach the lungs, where it normally protects against neutrophil e
ORPHA:60 ↗Gene SERPINA1Prevalence 1-5 per 10,000 (Orphanet)Onset All agesGenetic (autosomal codominant)
19
studies recruiting now
as of 7 Sept 2026
144
studies registered in total
as of 7 Sept 2026
13
countries with a recruiting site
as of 7 Sept 2026
29 Apr 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 1NCT07431112
A Study of AIR-001 in Adults With Alpha-1 Antitrypsin Deficiency (AATD)
RecruitingNCT04157049
Alpha-1 Research Registry
RecruitingPhase 3NCT07555483
A Non-inferiority Pharmacokinetic and Safety/Tolerability Study of Two Different Doses of Weekly SC Alpha1-PI 15% Compared With Corresponding Standard IV Alpha1-PI in Participants With Alpha1-Antitrypsin Deficiency (AATD)
RecruitingNCT06512454
A Study in Adults to Learn About Inherited Alpha-1 Antitrypsin Deficiency (AATD) and AATD Related Liver Problems
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 19 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency is caused by mutations in SERPINA1, most commonly the Z allele (Pi*ZZ genotype). The misfolded AAT protein accumulates in liver cells and cannot reach the lungs, where it normally protects against neutrophil elastase. This leads to early-onset emphysema (lung) and cirrhosis (liver). Weekly augmentation therapy replaces AAT protein but does not treat the underlying defect. RNA and gene therapies in trials aim to address the root cause.
Common clinical features
EmphysemaReduced circulating alpha-1-antitrypsinBronchiectasisBronchitisDecreased DLCOHepatitisIntrahepatic inclusion bodiesDyspnea
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 approved treatment and 2 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: .Alpha.1-Proteinase Inhibitor Human (Respreeza)
Phase 3Fazirsiran
Phase 2Belcesiran
Before you apply
Things trial teams commonly ask about for Alpha-1 Antitrypsin Deficiency. Not eligibility rules; those are set by each study.
- SERPINA1 genotype (Pi*ZZ, Pi*SZ, Pi*MZ) determines trial eligibility - Pi*ZZ has the most trials
- Lung function (FEV1% predicted, DLCO) and emphysema on CT are standard entry criteria
- Liver involvement (cirrhosis stage) opens liver-specific trial arms not available to lung-only patients
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).