Primary ciliary dyskinesia: prospects for new therapies, building on the experience in cystic fibrosis

Paediatric Respiratory Reviews

Volumn 10, Issue 2, 2009, Pages 58-62

  Amirav, Israel ^a   Cohen Cymberknoh, Malena ^b   Shoseyov, David ^b   Kerem, Eitan ^b  

^a Rebecca Sieff Government Hospital   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Kartagener syndrome; mucociliary clearance; mutation specific therapies; primary ciliary dyskinesia; therapeutic strategies

Indexed keywords

AMIKACIN; AMILORIDE; ARGININE; AZITHROMYCIN; AZTREONAM; CARBENICILLIN; CEFTAZIDIME; CHLORIDE ION; CIPROFLOXACIN; COLISTIN; DENUFOSOL; DEOXYRIBONUCLEASE; DNA; DORNASE ALFA; DURAMYCIN; EXPECTORANT AGENT; GENTAMICIN; IBUPROFEN; ION CHANNEL; MANNITOL; MUCOLYTIC AGENT; NEOMYCIN; PLACEBO; PTC 124; SODIUM CHLORIDE; SODIUM ION; TICARCILLIN; TOBRAMYCIN; UNINDEXED DRUG; URIDINE TRIPHOSPHATE;

ASTHMA; BRONCHIECTASIS; CHANNEL GATING; CILIARY DYSKINESIA; CILIARY MOTILITY; CILIATED EPITHELIUM; CLINICAL TRIAL; CYSTIC FIBROSIS; DISEASE ASSOCIATION; DNA MODIFICATION; DRY POWDER; FORCED EXPIRATORY VOLUME; GENE MUTATION; GENE THERAPY; HAEMOPHILUS INFLUENZAE; HUMAN; HYDRATION; INDIVIDUALIZATION; INNATE IMMUNITY; LUNG INFECTION; MEDICAL DECISION MAKING; MINIMUM INHIBITORY CONCENTRATION; MUCOCILIARY CLEARANCE; PATIENT CARE; PATIENT SELECTION; PRIORITY JOURNAL; PSEUDOMONAS AERUGINOSA; RESPIRATORY EPITHELIUM; REVIEW; STAPHYLOCOCCUS AUREUS; STREPTOCOCCUS PNEUMONIAE; UNSPECIFIED SIDE EFFECT;

ANTI-BACTERIAL AGENTS; CYSTIC FIBROSIS; DEOXYRIBONUCLEASE I; DIURETICS, OSMOTIC; EXPECTORANTS; HUMANS; HYPERTONIC SOLUTIONS; KARTAGENER SYNDROME; MUCOCILIARY CLEARANCE; MUTATION; RECOMBINANT PROTEINS; TREATMENT OUTCOME;

EID: 67349225475     PISSN: 15260542     EISSN: 15260550     Source Type: Journal    
DOI: 10.1016/j.prrv.2008.11.003     Document Type: Review

References (54)

1. Afzelius B.A., and Mossberg B. Immotile cilia syndrome (primary ciliary dyskinesia) including Kartagener syndrome. In: Scriver C.R., Beaudet A.L., and Sly W.S. (Eds). The Metabolic and Molecular Bases of Inherited Disease (1995), McGraw-Hill Inc, New York 3943-3954
2. Bush A., Cole P., Hariri M., et al. Primary ciliary dyskinesia: diagnosis and standards of care. Eur Respir J 12 (1998) 982-988
3. Rubin B.K., Tomkiewicz R.P., and King M. Mucoactive agents: Old and new. In: Wilmott R.W. (Ed). The Pediatric Lung. (1997), Birkhauser Verlag, Basel 155-179
4. Task Group on Mucoactive Drugs. Recommendations for guidelines on clinical trials of mucoactive drugs in chronic bronchitis and chronic obstructive pulmonary disease. Chest 106 (1994) 1532-1537
5. Daviskas E., Anderson S.D., Gonda I., et al. Inhalation of hypertonic saline aerosol enhances mucociliary clearance in asthmatic and healthy subjects. Eur Respir J 9 (1996) 725-732
6. King M., Dasgupta B., Tomkiewicz R.P., and Brown N.E. Rheology of cystic fibrosis sputum after in vitro treatment with hypertonic saline alone and in combination with recombinant human deoxyribonuclease I. Am J Respir Crit Care Med 156 (1997) 173-177
7. Elkins M.R., Robinson M., Rose B.R., et al., National Hypertonic Saline in Cystic Fibrosis (NHSCF) Study Group. A controlled trial of long-term inhaled hypertonic saline in patients with cystic fibrosis. N Engl J Med 354 (2006) 229-240
8. Donaldson S.H., Bennett W.D., Zeman K.L., Knowles M.R., Tarran R., and Boucher R.C. Mucus clearance and lung function in cystic fibrosis with hypertonic saline. N Engl J Med 354 (2006) 241-250
9. Kuzik B.A., Al-Qadhi S.A., Kent S., et al. Nebulized hypertonic saline in the treatment of viral bronchiolitis in infants. J Pediatr 151 (2007) 266-270
10. Wills P, Greenstone M. Inhaled hyperosmolar agents for bronchiectasis. Cochrane Database Syst Rev 2006; 2:CD00299.
11. Daviskas E., Anderson S.D., Brannan J.D., Chan H.K., Eberl S., and Bautovich G. Inhalation of dry-powder mannitol increases mucociliary clearance. Eur Respir J 10 (1997) 2449-2454
12. Daviskas E., Anderson S.D., Eberl S., Chan H.K., and Bautovich G. Inhalation of dry powder mannitol improves clearance of mucus in patients with bronchiectasis. Am J Respir Crit Care Med 159 (1999) 1843-1848
13. Daviskas E., Anderson S.D., Eberl S., and Young I.H. Effect of increasing doses of mannitol on mucus clearance in patients with bronchiectasis. Eur Respir J 31 (2008) 765-772
14. Glover W., Chan H.K., Eberl S., Daviskas E., and Verschuer J. Effect of particle size of dry powder mannitol on the lung deposition in healthy volunteers. Int J Pharm 349 (2008) 314-322
15. Knowles M.R., Church N.L., Waltner W.E., et al. A pilot study of aerosolized amiloride for the treatment of lung disease in cystic fibrosis. N Engl J Med 322 (1990) 1189-1194
16. Tomkiewicz R.P., App E.M., Zayas J.G., et al. Amiloride inhalation therapy in cystic fibrosis. Am Rev Respir Dis 148 (1993) 1002-1007
17. Graham A., Hasani A., Alton E.W., et al. No added benefit from nebulized amiloride in patients with cystic fibrosis. Eur Respir J 6 (1993) 1243-1248
18. Everard M.L., Devadson S.G., Sunderland V.B., and Le Souef P.N. An alternative aerosol delivery system for amiloride. Thorax 50 (1995) 517-519
19. Noone P.G., Olivier K.N., and Knowles M.R. Modulation of the ionic milieu of the airway in health and disease. Annu Rev Med 45 (1994) 421-434
20. Noone P.G., Bennett W.D., Regnis J.A., et al. Effect of aerosolized uridine-5'-triphosphate on airway clearance with cough in patients with primary ciliary dyskinesia. Am J Respir Crit Care Med 160 (1999) 144-149
21. Kellerman D., Rossi Mospan A., Engels J., Schaberg A., Gorden J., and Smiley L. Denufosol: A review of studies with inhaled P2Y(2) agonists that led to Phase 3. Pulm Pharmacol Ther 21 (2008) 600-607
22. Lindenfelser L.A., Pridham T.G., and Shotwell O.L. Stodola FH Antibiotics against plant disease. IV. Activity of duramycin against selected microorganisms. Antibiot Annu 5 (1957) 241-247
23. Grasemann H., Stehling F., Brunar H., et al. Inhalation of Moli1901 in patients with cystic fibrosis. Chest 131 (2007) 1461-1466
24. Labiris N., Holbrook A.M., Chrystyn H., Macleod S.M., and Newhouse M.T. Dry powder versus intravenous and nebulized gentamicin in cystic fibrosis and bronchiectasis. A pilot study. Am J Respir Crit Care Med 160 (1999) 1711-1716
25. McCoy KS, Quittner AL, Oermann CM, Gibson RL, Retsch-Bogart GZ, Bruce Montgomery A. Inhaled aztreonam lysine for chronic airway Pseudomonas aeruginosa in cystic fibrosis. Am J Respir Crit Care Med 2008 Jul 24.(epub ahead of print).
26. Barker A.F., Couch L., Fiel S.B., et al. Tobramycin solution for inhalation reduces sputum Pseudomonas aeruginosa density in bronchiectasis. Am J Respir Crit Care Med 162 (2000) 481-485
27. Couch L.A. Treatment with tobramycin solution for inhalation in bronchiectasis patients with Pseudomonas aeruginosa. Chest 120 (2001) 114-117
28. Bilton D., Henig N., Morrissey B., and Gotfried M. Addition of inhaled tobramycin to ciprofloxacin for acute exacerbations of Pseudomonas aeruginosa infection in adult bronchiectasis. Chest 130 (2006) 1503-1510
29. Ramsey B.W., Pepe M.S., Quan J.M., et al. Intermittent administration of inhaled tobramycin in patients with cystic fibrosis: Cystic Fibrosis Inhaled Tobramycin Study Group. N Engl J Med 340 (1999) 23-30
30. Bolister N., Basker M., Hodges N.A., and Marriott C. The diffusion of beta-lactam antibiotics through mixed gels of cystic fibrosis-derived mucin and Pseudomonas aeruginosa alginate. J Antimicrob Chemother 27 (1991) 285-293
31. 1 decline in children with cystic fibrosis. Am J Respir Crit Care Med 176 (2007) 1084-1089
32. Auerbach H.S., Williams M., Kirkpatrick J.A., and Colten H.R. Alternate-day prednisone reduces morbidity and improves pulmonary function in cystic fibrosis. Lancet 2 (1985) 686-688
33. Greally P., Hussain M.J., Vergani D., and Price J.F. Interleukin-1a, soluble interleukin-2 receptor, and IgG concentrations in cystic fibrosis treated with prednisolone. Arch Dis Child 71 (1994) 35-39
34. Saiman L., Marshall B.C., Mayer-Hamblett N., et al. Azithromycin in patients with cystic fibrosis chronically infected with Pseudomonas aeruginosa: a randomized controlled trial. JAMA 290 (2003) 1749-1756
35. Wolter J., Seeney S., Bell S., Bowler S., Masel P., and McCormack J. Effect of long term treatment with azithromycin on disease parameters in cystic fibrosis: a randomised trial. Thorax 57 (2002) 212-216
36. Equi A., Balfour-Lynn I.M., Bush A., and Rosenthal M. Long term azithromycin in children with cystic fibrosis: a randomised, placebo-controlled crossover trial. Lancet 360 (2002) 978-984
37. Anwar G.A., Bourke S.C., Afolabi G., Middleton P., Ward C., and Rutherford R.M. Effects of long-term low-dose azithromycin in patients with non-CF bronchiectasis. Respir Med 102 (2008) 1494-1496
38. Grasemann H., Gärtig S.S., Wiesemann H.G., Teschler H., Konietzko N., and Ratjen F. Effect of L-arginine infusion on airway NO in cystic fibrosis and primary ciliary dyskinesia syndrome. Eur Respir J 13 (1999) 114-118
39. Fuchs H.J., Borowitz D.S., Christiansen D.H., et al. Effect of aerosolized recombinant human DNase on exacerbations of respiratory symptoms and on pulmonary function in patients with cystic fibrosis. N Engl J Med 331 (1994) 637-642
40. Hodson M.E., and Shah P.L. RhDNase trials in cystic fibrosis. Eur Respir J 8 (1995) 1786-1791
41. Ratjen F. Dornase in non-CF. Pediatr Pulmonol 26 (2004) 154-155
42. Bush A., Payne D., Pike S., Jenkins G., Henke M.O., and Rubin B.K. Mucus properties in children with primary ciliary dyskinesia. Comparison with cystic fibrosis. Chest 129 (2006) 118-123
43. Desai M., Weller P.H., and Spencer D.A. Clinical benefit from nebulized human recombinant DNase in Kartagener's syndrome. Pediatr Pulmonol 20 (1995) 307-308
44. Ten Berge M., Brinkhorst G., Kroon A.A., and de Jongste J.C. DNase treatment in primary ciliary dyskinesia-assessment by nocturnal pulse oximetry. Pediatr Pulmonol 27 (1999) 59-61
45. El-Abiad N.M., Clifton S., and Nasr S.Z. Long-term use of nebulized human recombinant DNase1 in two siblings with primary ciliary dyskinesia. Respir Med 101 (2007) 2224-2226
46. O'Donnell A.E., Barker A.F., Ilowite J.S., and Fick R.B. Treatment of idiopathic bronchiectasis with aerosolized recombinant human DNase I. rhDNase Study Group. Chest 113 (1998) 1329-1334
47. Holbrook J.A., Neu-Yilik G., Hentze M.W., and Kulozik A.E. Nonsense-mediated decay approaches the clinic. Nat Genet 36 (2004) 801-808
48. Bedwell D.M., Kaenjak A., Benos D.J., et al. Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line. Nat Med 3 (1997) 1280-1284
49. Wilschanski M., Famini C., Blau H., et al. A pilot study of the effect of gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations. Am J Respir Crit Care Med 161 (2000) 860-865
50. Clancy J.P., Bebok Z., Ruiz F., et al. Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. Am J Respir Crit Care Med 163 (2001) 1683-1692
51. Wilschanski M., Yahav Y., Yaacov Y., et al. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 349 (2003) 1433-1441
52. Kerem E., Hirawat S., Armoni S., et al. PTC124 activity in CF patients carrying stop mutations: Interim results of phase 2 study. Lancet 372 (2008) 691-692
53. Hornef N., Olbrich H., Horvath J., et al. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med 174 (2006) 120-126
54. Olbrich H., Haffner K., Kispert A., et al. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet 30 (2002) 43-44