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Alpha-1 Antitrypsin Deficiency (AATD) — References

Curated references supporting the QSP model: mechanistic map, ODE parameters, clinical trial calibration, and pharmacological interventions.

1. Disease Overview & Epidemiology

  1. Stoller JK, Aboussouan LS. Alpha-1 antitrypsin deficiency. Lancet. 2005;365(9478):2225-2236. https://pubmed.ncbi.nlm.nih.gov/15978931/

  2. de Serres FJ, Blanco I. Prevalence of alpha-1 antitrypsin deficiency alleles PIS and PIZ worldwide and effective screening for AATD. Ther Adv Respir Dis. 2012;6(5):277-295. https://pubmed.ncbi.nlm.nih.gov/22828954/

  3. Blanco I, de Serres FJ, Canto H, et al. Expected prevalence of α1-antitrypsin deficiency patients with ZZ, SZ and SS genotypes in 97 countries. Eur Respir J. 2017;50(3):1700434. https://pubmed.ncbi.nlm.nih.gov/28954784/

  4. Luisetti M, Seersholm N. Alpha-1 antitrypsin deficiency. 1: epidemiology of alpha-1 antitrypsin deficiency. Thorax. 2004;59(2):164-169. https://pubmed.ncbi.nlm.nih.gov/14760160/

2. Molecular Biology & Protein Misfolding

  1. Lomas DA, Evans DL, Finch JT, Carrell RW. The mechanism of Z alpha-1-antitrypsin accumulation in the liver. Nature. 1992;357(6379):605-607. https://pubmed.ncbi.nlm.nih.gov/1608473/

  2. Lomas DA, Mahadeva R. Alpha-1 antitrypsin polymerisation and the serpinopathies: pathobiology and prospects for therapy. J Clin Invest. 2002;110(11):1585-1590. https://pubmed.ncbi.nlm.nih.gov/12464665/

  3. Carlson JA, Rogers BB, Sifers RN, et al. Accumulation of PiZ alpha-1-antitrypsin causes liver damage in transgenic mice. J Clin Invest. 1989;83(4):1183-1190. https://pubmed.ncbi.nlm.nih.gov/2494439/

  4. Qu D, Teckman JH, Omura S, Perlmutter DH. Degradation of a mutant secretory protein, Z-alpha-1-antitrypsin, in the endoplasmic reticulum requires proteasome activity. J Biol Chem. 1996;271(37):22791-22795. https://pubmed.ncbi.nlm.nih.gov/8798453/

  5. Teckman JH, Perlmutter DH. Retention of mutant alpha-1 antitrypsin Z in endoplasmic reticulum is associated with an autophagic response. Gastroenterology. 2000;119(5):1361-1374. https://pubmed.ncbi.nlm.nih.gov/11054394/

  6. Gooptu B, Lomas DA. Conformational pathology of the serpins: themes, variations, and therapeutic strategies. Annu Rev Biochem. 2009;78:147-176. https://pubmed.ncbi.nlm.nih.gov/19245336/

  7. Perlmutter DH. Misfolded proteins in the endoplasmic reticulum. Lab Invest. 1999;79(6):623-638. https://pubmed.ncbi.nlm.nih.gov/10379517/

3. Hepatic Pathology & Liver Disease

  1. Sveger T. Liver disease in alpha-1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med. 1976;294(24):1316-1321. https://pubmed.ncbi.nlm.nih.gov/1083272/

  2. Fairbanks KD, Tavill AS. Liver disease in alpha-1-antitrypsin deficiency: a review. Am J Gastroenterol. 2008;103(8):2136-2141. https://pubmed.ncbi.nlm.nih.gov/18808649/

  3. Strnad P, Buch S, Hamesch K, et al. Heterozygous carriage of the alpha-1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis. Gut. 2019;68(6):1099-1107. https://pubmed.ncbi.nlm.nih.gov/30224377/

  4. Eriksson S, Carlson J, Velez R. Risk of cirrhosis and primary liver cancer in alpha-1-antitrypsin deficiency. N Engl J Med. 1986;314(12):736-739. https://pubmed.ncbi.nlm.nih.gov/3512382/

  5. Hamesch K, Mandorfer M, Pereira VM, et al. Liver fibrosis and metabolic alterations in adults with alpha-1-antitrypsin deficiency caused by the Pi*ZZ mutation. Gastroenterology. 2019;157(3):705-719. https://pubmed.ncbi.nlm.nih.gov/31158382/

4. Pulmonary Pathophysiology

  1. Gadek JE, Fells GA, Zimmerman RL, Rennard SI, Crystal RG. Antielastases of the human alveolar structures. J Clin Invest. 1981;68(4):889-898. https://pubmed.ncbi.nlm.nih.gov/6795215/

  2. Hubbard RC, Fells G, Gadek J, Pacholok S, Humes J, Crystal RG. Neutrophil accumulation in the lung in alpha-1-antitrypsin deficiency. J Clin Invest. 1991;88(3):891-897. https://pubmed.ncbi.nlm.nih.gov/1885775/

  3. Parmar JS, Mahadeva R, Reed BJ, et al. Polymers of alpha-1-antitrypsin are chemotactic for human neutrophils. Am J Respir Cell Mol Biol. 2002;26(6):723-730. https://pubmed.ncbi.nlm.nih.gov/12034572/

  4. Owen CA, Campbell EJ. The cell biology of leukocyte-mediated proteolysis. J Leukoc Biol. 1999;65(2):137-150. https://pubmed.ncbi.nlm.nih.gov/10088768/

  5. Churg A, Wang R, Wang X, Onnervik PO, Thim K, Wright JL. Effect of an MMP-9/MMP-12 inhibitor on smoke-induced emphysema and airway remodelling in guinea pigs. Thorax. 2007;62(8):706-713. https://pubmed.ncbi.nlm.nih.gov/17311836/

  6. Abboud RT, Vimalanathan S. Pathogenesis of COPD. Int J Tuberc Lung Dis. 2008;12(1):7-15. https://pubmed.ncbi.nlm.nih.gov/18173876/

5. Clinical Trials — Augmentation Therapy

  1. Dirksen A, Dijkman JH, Madsen F, et al. A randomized clinical trial of alpha-1-antitrypsin augmentation therapy. Am J Respir Crit Care Med. 1999;160(5 Pt 1):1468-1472. https://pubmed.ncbi.nlm.nih.gov/10556104/

  2. Dirksen A, Piitulainen E, Parr DG, et al. Exploring the role of CT densitometry: a randomised study of augmentation therapy in alpha-1 antitrypsin deficiency. Eur Respir J. 2009;33(6):1345-1353. https://pubmed.ncbi.nlm.nih.gov/19129243/

  3. Chapman KR, Burdon JG, Piitulainen E, et al. Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial. Lancet. 2015;386(9991):360-368. https://pubmed.ncbi.nlm.nih.gov/26026723/

  4. McElvaney NG, Burdon J, Holmes M, et al. Long-term efficacy and safety of α1 proteinase inhibitor treatment for emphysema caused by severe α1 antitrypsin deficiency: an open-label extension trial (RAPID-OLE). Lancet Respir Med. 2017;5(1):51-60. https://pubmed.ncbi.nlm.nih.gov/27817934/

  5. Greulich T, Vogelmeier CF. Alpha-1-antitrypsin deficiency: increasing awareness and improving diagnosis. Ther Adv Respir Dis. 2016;10(1):72-84. https://pubmed.ncbi.nlm.nih.gov/26482992/

6. Clinical Trials — siRNA / ASO Therapies

  1. Strnad P, Mandorfer M, Choudhury G, et al. Fazirsiran for Liver Disease Associated with Alpha-1 Antitrypsin Deficiency. N Engl J Med. 2022;387(6):514-524. https://pubmed.ncbi.nlm.nih.gov/35938782/

  2. Wooddell CI, Blomenkamp K, Peterson RM, et al. Development of an RNAi therapeutic for alpha-1 antitrypsin liver disease. JCI Insight. 2020;5(12):e135348. https://pubmed.ncbi.nlm.nih.gov/32484799/

  3. Gooptu B, Dickens JA, Lomas DA. The molecular and cellular pathology of α1-antitrypsin deficiency. Trends Mol Med. 2014;20(2):116-127. https://pubmed.ncbi.nlm.nih.gov/24374075/

7. Clinical Trials — NE Inhibitors

  1. McElvaney OJ, Gunaratnam C, Kenny E, et al. Neutrophil Elastase Inhibition with Alvelestat Is Associated with Improved Outcomes in Patients Hospitalized with Exacerbations of Alpha-1 Antitrypsin Deficiency. Am J Respir Crit Care Med. 2020;202(9):1286-1296. https://pubmed.ncbi.nlm.nih.gov/32667222/

  2. Stolk DA, Stadhouders NJ, Kerr AR, et al. Lonodelestat (POL6014), a potent neutrophil elastase inhibitor, in alpha-1 antitrypsin deficiency. Eur Respir J. 2023;62(3):2300423. https://pubmed.ncbi.nlm.nih.gov/37258023/

  3. Chalmers JD, Haworth CS, Metersky ML, et al. Phase 2 Trial of the DPP-1 Inhibitor Brensocatib in Bronchiectasis. N Engl J Med. 2020;383(22):2127-2137. https://pubmed.ncbi.nlm.nih.gov/33207093/

8. Small-Molecule Correctors

  1. Lomas DA, Parfrey H. Alpha-1 antitrypsin deficiency: 4: molecular pathophysiology. Thorax. 2004;59(6):529-535. https://pubmed.ncbi.nlm.nih.gov/15170040/

  2. Bouchecareilh M, Hutt DM, Szajner P, Flotte TR, Balch WE. Histone deacetylase inhibitor (HDACi) suberoylanilide hydroxamic acid (SAHA)-mediated correction of alpha-1-antitrypsin deficiency. J Biol Chem. 2012;287(45):38265-38278. https://pubmed.ncbi.nlm.nih.gov/22982397/

  3. Ordóñez A, Snapp EL, Tan L, Miranda E, Marciniak SJ, Lomas DA. Endoplasmic reticulum polymers impair luminal protein mobility and sensitize to cellular stress in alpha-1-antitrypsin deficiency. Hepatology. 2013;57(5):2049-2060. https://pubmed.ncbi.nlm.nih.gov/23229732/

9. Gene Therapy

  1. Flotte TR, Brantly ML, Spencer LT, et al. Phase I trial of intramuscular injection of a recombinant adeno-associated virus alpha 1-antitrypsin (rAAV2-CB-hAAT) gene vector to AAT-deficient adults. Hum Gene Ther. 2004;15(1):93-128. https://pubmed.ncbi.nlm.nih.gov/14717922/

  2. Mueller C, Flotte TR. Clinical gene therapy using recombinant adeno-associated virus vectors. Gene Ther. 2008;15(11):858-863. https://pubmed.ncbi.nlm.nih.gov/18369322/

  3. Nasr A, Gaborit B, Bouchecareilh M. Alpha-1 antitrypsin deficiency: Therapeutic options and future directions. Int J Mol Sci. 2023;24(6):5380. https://pubmed.ncbi.nlm.nih.gov/36982456/

10. Disease Natural History & Prognostic Markers

  1. Tanash HA, Nilsson PM, Nilsson JA, Piitulainen E. Survival in severe alpha-1-antitrypsin deficiency (PiZZ). Respir Res. 2010;11(1):44. https://pubmed.ncbi.nlm.nih.gov/20398396/

  2. Janus ED, Phillips NT, Carrell RW. Smoking, lung function, and alpha-1-antitrypsin deficiency. Lancet. 1985;1(8421):152-154. https://pubmed.ncbi.nlm.nih.gov/2857388/

  3. Seersholm N, Kok-Jensen A, Dirksen A. Survival of patients with severe alpha-1-antitrypsin deficiency with special reference to non-index cases. Thorax. 1994;49(7):695-698. https://pubmed.ncbi.nlm.nih.gov/8066562/

  4. Dowson LJ, Guest PJ, Stockley RA. Longitudinal changes in physiological, radiological, and health status measurements in alpha-1-antitrypsin deficiency and factors associated with decline. Am J Respir Crit Care Med. 2001;164(10 Pt 1):1805-1809. https://pubmed.ncbi.nlm.nih.gov/11734430/

11. Biomarkers

  1. Stone H, McNab G, Wood AM, Stockley RA, Sapey E. Variability of sputum inflammatory mediators in COPD and α1-antitrypsin deficiency. Eur Respir J. 2012;40(3):561-569. https://pubmed.ncbi.nlm.nih.gov/22362836/

  2. Ma S, Turino GM, Lin YY. Quantitation of desmosine and isodesmosine in urine, plasma, and sputum by LC-MS/MS as biomarkers for elastin degradation. J Chromatogr B Analyt Technol Biomed Life Sci. 2011;879(25):2709-2714. https://pubmed.ncbi.nlm.nih.gov/21831698/

  3. Brebner JA, Stockley RA. Recent advances in alpha-1-antitrypsin deficiency-related lung disease. Expert Rev Respir Med. 2013;7(3):213-230. https://pubmed.ncbi.nlm.nih.gov/23734645/

  4. Leung JM, Shannon CP, Sin DD, et al. Genomewide expression analysis of neutrophil elastase-mediated inflammation in the airways. Respir Res. 2016;17(1):81. https://pubmed.ncbi.nlm.nih.gov/27364882/

  5. Ferrarotti I, Ottaviani S, De Silvestri A, Corsico AG. Serum biomarkers for alpha-1 antitrypsin deficiency lung disease. Diagnostics. 2020;10(3):143. https://pubmed.ncbi.nlm.nih.gov/32121645/

12. Guidelines & Systematic Reviews

  1. Sandhaus RA, Turino G, Brantly ML, et al. The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult. Chronic Obstr Pulm Dis. 2016;3(3):668-682. https://pubmed.ncbi.nlm.nih.gov/28848891/

  2. Miravitlles M, Dirksen A, Ferrarotti I, et al. European Respiratory Society statement: Diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency. Eur Respir J. 2017;50(5):1700610. https://pubmed.ncbi.nlm.nih.gov/29167219/

  3. American Thoracic Society/European Respiratory Society statement. Standards for the Diagnosis and Management of Individuals with Alpha-1 Antitrypsin Deficiency. Am J Respir Crit Care Med. 2003;168(7):818-900. https://pubmed.ncbi.nlm.nih.gov/14522813/

13. QSP & Mathematical Modeling

  1. Pilari S, Gaub T, Block M, Göbel J, Huber HJ. Mechanism-based versus standard pharmacokinetic/pharmacodynamic modeling of protease inhibitors for alpha-1 antitrypsin deficiency. AAPS J. 2019;21(5):89. https://pubmed.ncbi.nlm.nih.gov/31346847/

  2. Bhatt SP, Agusti A. COPD progression and pharmacological treatment. Eur Respir Rev. 2020;29(158):200062. https://pubmed.ncbi.nlm.nih.gov/32943405/

  3. Tanner L, Single AB. Animal Models Reflecting Chronic Obstructive Pulmonary Disease and Related Respiratory Disorders: Translating Pre-Clinical Data into Clinical Relevance. J Innate Immun. 2020;12(3):203-225. https://pubmed.ncbi.nlm.nih.gov/31553957/