Augmentation therapy in α-1 antitrypsin deficiency

Expert Opinion on Biological Therapy

Volumn 8, Issue 4, 2008, Pages 515-526

  Heresi, Gustavo A ^a   Stoller, James K ^a,b  

^a LERNER RESEARCH INSTITUTE   (United States)

^b CLEVELAND CLINIC LERNER COLLEGE OF MEDICINE   (United States)

Author keywords

1 antitrypsin; Augmentation therapy; Emphysema

Indexed keywords

ALPHA 1 ANTITRYPSIN; RESPITIN; TRYPSONE; UNCLASSIFIED DRUG; ZERNAIRA; PROTEINASE INHIBITOR;

ALPHA 1 ANTITRYPSIN DEFICIENCY; AREA UNDER THE CURVE; CHILL; COST EFFECTIVENESS ANALYSIS; DRUG APPROVAL; DRUG EFFICACY; DRUG SAFETY; DRUG TOLERABILITY; DYSPNEA; EMPHYSEMA; FATIGUE; FEVER; FOOD AND DRUG ADMINISTRATION; HUMAN; IMMUNE RESPONSE; NAUSEA AND VOMITING; REVIEW; URTICARIA; VACCINATION; ENZYMOLOGY; INTRAVENOUS DRUG ADMINISTRATION; LUNG EMPHYSEMA; METABOLISM; TREATMENT OUTCOME;

ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; HUMANS; INFUSIONS, INTRAVENOUS; PROTEASE INHIBITORS; PULMONARY EMPHYSEMA; TREATMENT OUTCOME;

EID: 42149097314     PISSN: 14712598     EISSN: None     Source Type: Journal    
DOI: 10.1517/14712598.8.4.515     Document Type: Review

References (50)

1. Wood AM, Stockley RA. Alpha one antitrypsin deficiency: from gene to treatment. Respiration 2007;74:481-92
2. Stoller JK, Aboussouan LS. α1-antitrypsin deficiency. Lancet 2005;365:2225-36 •• A recent review.
3. Laurell CB EA. The electrophoretic alpha 1-globulin pattern of serum in alpha 1-antitrypsin deficiency. Scand J Clin Lab Invest 1963;15:132-40
4. Luisetti M, Seersholm N. α1-antitrypsin deficiency. 1: epidemiology of α1-antitrypsin deficiency. Thorax 2004;59:164-9
5. DeMeo DL, Silverman EK. α1-antitrypsin deficiency. 2: genetic aspects of α1-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. Thorax 2004;59:259-64
6. Sutherland ER, Cherniack RM. Management of chronic obstructive pulmonary disease. N Engl J Med 2004;350:2689-97
7. Brandy M. α1-antitrypsin: not just an antiprotease: extending the half-life of a natural anti-inflammatory molecule by conjugation with polyethylene glycol. Am J Respir Cell Mol Biol 2002;27:652-4
8. Stoller JK. Clinical features and natural history of severe α1-antitrypsin deficiency. Roger S. Mitchell Lecture. Chest 1997;111:Sl23-8
9. Hubbard RC, Crystal RG. Alpha-1-antitrypsin augmentation therapy for alpha-1-antitrypsin deficiency. Am J Med 1988;84:52-62
10. Gadek JE, Klein HG, Holland PV, Crystal RG. Replacement therapy of alpha 1-antitrypsin deficiency. Reversal of protease-antiprotease imbalance within the alveolar structures of PiZ subjects. J Clin Invest 1981;68:1158-65 • An early report of augmentation therapy.
11. Juvelekian GS, Stoller JK. Augmentation therapy for α1-antitrypsin deficiency. Drugs 2004;64:1743-56
12. 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;168:818-900
13. Coan MH, Brockway WJ, Eguizabal H, et al. Preparation and properties of alpha 1-proteinase inhibitor concentrate from human plasma. Vox Sang 1985;48:333-42
14. Carrell RW, Lomas DA. Alpha1-antitrypsin deficiency - a model for conformational diseases. N Engl J Med 2002;346:45-53 • Elegant description of the mechanism of AAT deficiency as a conformational disease.
15. Mornex JF, Chytil-Weir A, Martinet Y, et al. Expression of the alpha-1-antitrypsin gene in mononuclear phagocytes of normal and alpha-1-antitrypsin-deficient individuals. J Clin Invest 1986;77:1952-61
16. Venembre P, Boutten A, Seta N, et al. Secretion of alpha 1-antitrypsin by alveolar epithelial cells. FEBS Lett 1994;346:171-4
17. Lomas DA, Mahadeva R. al-antitrypsin polymerization and the serpinopathies: pathobiology and prospects for therapy. J Clin Invest 2002;110:1585-90
18. Wilczynska M, Fa M, Karolin J, et al. Structural insights into serpin-protease complexes reveal the inhibitory mechanism of serpins. Nat Struct Biol 1997;4:354-7
19. Elliott PR, Lomas DA, Carrell RW, Abrahams JP. Inhibitory conformarion of the reactive loop of alpha 1-antitrypsin. Nat Struct Biol 1996;3:676-81
20. Gadek JE, Fells GA, Zimmerman RL, et al. Antielastases of the human alveolar structures, implications for the protease-antiprotease theory of emphysema. J Clin Invest 1981;68:889-98
21. Huntington JA, Read RJ, Carrell RW. Structure of a serpin-protease complex shows inhibition by deformation. Nature 2000;407:923-6
22. Eriksson S. A 30-year perspective on al-antitrypsin deficiency. Chest 1996;110:S237-42
23. Churg A, Dai J, Zay K, et al. Alpha-1-antitrypsin and a broad spectrum metalloprotease inhibitor, RS113456, have similar acute anti-inflammatory effects. Lab Invest 2001;81:1119-31
24. Spencer LT, Paone G, Krein PM, et al. Role of human neutrophil peptides in lung inflammation associated with α1-antitrypsin deficiency. Am J Physiol Lung Cell Mol Physiol 2004;286:L514-520
25. Aldonyte R, Jansson L, Janciauskiene S. Concentration-dependent effects of native and polymerised α1-antitrypsin on primary human monocytes, in vitro. BMC Cell Biol 2004;5:11. Published online 29 March 2004, doi:10.1186/1471-2121-5-11
26. Janciauskiene S, Larsson S, Larsson P, et al. Inhibition of lipopolysaccharide-mediated human monocyte activation, in vitro, by α1-antitrypsin. Biochem Biophys Res Commun 2004;321:592-600
27. Dafforn TR, Mahadeva R, Elliott PR, et al. A kinetic mechanism for the polymerization of α1-antitrypsin. J Biol Chem 1999;274:9548-55
28. Devlin GL, Chow MK, Howlett GJ, Bottomley SP. Acid Denaturation of alpha1-antitrypsin: characterization of a novel mechanism of serpin polymerization. J Mol Biol 2002;324:859-70
29. Sivasothy P, Dafforn TR, Gettins PG, Lomas DA. Pathogenic α1-antitrypsin polymers are formed by reactive loop-β-sheer A linkage. J Biol Chem 2000;275:33663-8
30. Lomas DA, Evans DL, Finch JT, Carrell RW. The mechanism of Zα1-antitrypsin accumulation in the liver. Nature 1992;357:605-7
31. Wewers MD, Casolaro MA, Sellers SE, et al. Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysema. N Engl J Med 1987;316:1055-62 • Early description of augmentation therapy, establishing biochemical efficacy.
32. Hubbard RC, Sellers S, Czerski D, et al. Biochemical efficacy and safety of monthly augmentation therapy for alpha 1-antitrypsin deficiency. JAMA 1988;260:1259-64
33. Barker AF, Iwata-Morgan I, Oveson L, Roussel R. Pharmacokinetic study of α1-antitrypsin infusion in α1-antitrypsin deficiency. Chest 1997;112:607-13
34. Stoller JK, Rouhani F, Brantly M, et al. Biochemical efficacy and safety of a new pooled human plasma α1-antitrypsin, Respitin. Chest 2002;122:66-74
35. Stocks JM, Brantly M, Pollock D, et al. Multi-center study: the biochemical efficacy, safety and tolerability of a new alpha1-proteinase inhibitor, Zemaira. Copd 2006;3:17-23
36. Seersholm N, Wencker M, Banik N, et al. Does α1-antitrypsin augmentation therapy slow the annual decline in FEV1 in patients with severe hereditary α1-anritrypsin deficiency? Wissenschafrliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL) alpha1-AT study group. Eur Respir J 1997;10:2260-3
37. Survival and FEV1 decline in individuals with severe deficiency of α1-antitrypsin. The Alpha-1-Antitrypsin Deficiency Registry Study Group. Am J Respir Crit Care Med 1998;158:49-59 • Main outcomes paper from the NHLBI Registry.
38. Lieberman J. Augmentation therapy reduces frequency of lung infections in antitrypsin deficiency: a new hypothesis with supporting data. Chest 2000;118:1480-5
39. Gottlieb DJ, Luisetti M, Stone PJ, et al. Short-term supplementation therapy does nor affect elastin degradarion in severe alpha(1)-antitrypsin deficiency. The American-Italian AATD Study Group. Am J Respir Crit Care Med 2000;162:2069-72
40. Wencker M, Fuhrmann B, Banik N, Konietzko N. Longitudinal follow-up of patients with α1-protease inhibitor deficiency before and during therapy with IV α1-protease inhibitor. Chest 2001;119:737-44
41. Stockley RA, Bayley DL, Unsal I, Dowson LJ. The effect of augmentation therapy on bronchial inflammation in alphal-antitrypsin deficiency. Am J Respir Crit Care Med 2002;165:1494-8
42. Dirksen A, Dijkman JH, Madsen F, et al. A randomized clinical trial of al-antitrypsin augmentation therapy. Am J Respir Crit Care Med 1999;160:1468-72
43. Stone PJ, Morris TA 3rd, Franzblau C, Snider GL. Preliminary evidence that augmentation therapy diminishes degradation of cross-linked elastin in alpha-1-antitrypsin-deficient humans. Respiration 1995;62:76-9
44. Wencker M, Banik N, Buhl R, et al. Long-term treatment of α1-antitrypsin deficiency-related pulmonary emphysema with human α1-antitrypsin. Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL)-alpha1-AT-study group. Eur Respir J 1998;11:428-33
45. Stoller JK, Fallat R, Schluchter MD, et al. Augmentation therapy with α1-antitrypsin: patterns of use and adverse events. Chest 2003;123:1425-34 • Report of use patterns and adverse effects associated with augmentation therapy.
46. Hay JW, Robin ED. Cost-effectiveness of alpha-1 antitrypsin replacement therapy in treatment of congenital chronic obstructive pulmonary disease. Am J Public Health 1991;81:427-33
47. Alkins SA, O'Malley P. Should health-care systems pay for replacement therapy in patients with al-antitrypsin deficiency? A critical review and cost-effectiveness analysis. Chest 2000;117:875-80
48. Gildea TR, Shermock KM, Singer ME, Sroller JK. Cost-effectiveness analysis of augmentation therapy for severe al-antitrypsin deficiency. Am J Respir Crit Care Med 2003;167:1387-92 • Most recent cost-effectiveness analysis of augmentation therapy.
49. Abboud RT, Ford GT, Chapman KR. Alphal-antitrypsin deficiency: a position statement of the Canadian Thoracic Society. Can Respir J 2001;8:81-8
50. Larsson C. Natural history and life expectancy in severe alpha1-antitrypsin deficiency, Pi Z. Acta Med Scand 1978;204:345-51