Biomarker & Intervention Discovery
Alpha-1 Antitrypsin Deficiency (AATD)
Pharmacologically actionable gene targets, therapeutic agents ranked by evidence tier, and active clinical trials.
Spontaneous remissionProgressive lung and liver disease; ZZ genotype: FEV1 decline accelerated (80-100 mL/year vs 30 mL/year in…
Best-intervention remissionAlpha-1 augmentation therapy (IV human AAT): slows CT-measured emphysema progression by 34% (RAPID trial); smoking…
Gap sizeVery large — only 5-10% of AATD individuals are diagnosed; augmentation therapy reduces CT progression but functional…
Primary barrieraccess + practice (underdiagnosis)
Full remission profile →
Remission & chronicity
Spontaneous remission
Progressive lung and liver disease; ZZ genotype: FEV1 decline accelerated (80-100 mL/year vs 30 mL/year in non-smokers); liver cirrhosis progressive; no spontaneous resolution without augmentation therapy
Best-intervention remission
Alpha-1 augmentation therapy (IV human AAT): slows CT-measured emphysema progression by 34% (RAPID trial); smoking cessation: most important modifiable factor (reduces FEV1 decline to near-normal rate); fazirsiran (RNAi targeting hepatic AAT production): 83% reduction in Z-AAT liver accumulation
Gap size
Very large — only 5-10% of AATD individuals are diagnosed; augmentation therapy reduces CT progression but functional benefit debated; liver disease has no approved disease-modifying therapy
Primary barrier
access + practice (underdiagnosis)
AATD is misdiagnosed as COPD or asthma for a mean of 5-7 years; spirometry for COPD should trigger AATD testing but this is rarely done; fazirsiran (RNAi) reduces hepatic Z-protein accumulation — Phase 3 underway for liver disease; augmentation therapy is IV every 4 weeks lifelong (~$100K/year)
Biomarker Targets & Therapeutic Agents
Gene targets queried against DGIdb, Open Targets, ChEMBL, PubMed, and Europe PMC.
Agents ranked: ● Clinical >
● Mechanistic >
● Correlative.
Pipeline results not yet available. Run: python -m biomarker_pipeline.run_for_diseases --skip-llm
Clinical Trials
Recruiting and recently completed trials from ClinicalTrials.gov.
Data retrieved 2026-07-06.
No recent clinical trials found on ClinicalTrials.gov for this condition.
Agents Found By Disease-Level Search
Searched directly from “Alpha-1 Antitrypsin Deficiency (AATD)” via ClinicalTrials.gov interventions and Open Targets'
disease→drug data — independent of the 0-gene target panel above.
This surfaces agents whose mechanism doesn't route through a curated gene (combination
therapies, standard-of-care drugs, targets outside the panel).
Not yet run. python -m biomarker_pipeline.run_disease_agent_discovery --disease "..."