Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease

Blood Cells, Molecules, and Diseases

Volumn 50, Issue 2, 2013, Pages 134-137

  Zimran, Ari ^a   Altarescu, Gheona ^a   Elstein, Deborah ^a  

^a HEBREW UNIVERSITY   (Israel)

Author keywords

Ambroxol; Enzyme replacement therapy; Gaucher disease; Glucocerebrosidase activity; Pharmacological chaperones

Indexed keywords

AMBROXOL; CHAPERONE; HEMOGLOBIN;

ADULT; ARTICLE; BODY WEIGHT; CLINICAL ARTICLE; CONTROLLED STUDY; DRUG EFFICACY; DRUG ERUPTION; DRUG HYPERSENSITIVITY; DRUG TOLERABILITY; DRUG WITHDRAWAL; FACE DISORDER; FEMALE; GAUCHER DISEASE; HEMOGLOBIN BLOOD LEVEL; HUMAN; LIVER WEIGHT; MALE; OFF LABEL DRUG USE; PILOT STUDY; PRESCRIPTION; PRIORITY JOURNAL; SPLEEN WEIGHT; SPLENECTOMY; THROMBOCYTE COUNT; TREATMENT RESPONSE; TYPE 1 GAUCHER DISEASE;

ADULT; AMBROXOL; DRUG HYPERSENSITIVITY; ENZYME STABILITY; FEMALE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HEXOSAMINIDASES; HUMANS; LIVER; MALE; MIDDLE AGED; OFF-LABEL USE; ORGAN SIZE; PILOT PROJECTS; PLATELET COUNT; SPLEEN; SPLENECTOMY; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84871994423     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2012.09.006     Document Type: Article

References (36)

1. Hruska K.S., LaMarca M.E., Sidransky E. Gaucher disease: molecular biology and genotype-phenotype correlations. Gaucher Disease 2007, 13-27. USA, CRC Press, Florida. A.H. Futerman, A. Zimran (Eds.).
2. Sawkar A.R., Adamski-Werner S.L., Cheng W.C., et al. Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles. Chem. Biol. 2005, 12:1235-1244.
3. Chang H.H., Asano N., Ishii S., Ichikawa Y., Fan F.Q. Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients. FEBS J. 2006, 273:4082-4092.
4. Tropak M.B., Kornhaber G.J., Rigat B.A., et al. Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry. Chembiochem 2008, 9:2650-2662.
5. Oulaïdi F., Front-Deschamps S., Gallienne E., et al. Second-generation iminoxylitol-based pharmacological chaperones for the treatment of Gaucher disease. ChemMedChem 2011, 6:353-361.
6. Zimran A., Elstein D. Lipid storage diseases. Williams Hematology 2010, 1065-1071. McGraw-Hill, New York. 8th edition. M.A. Lichtman, T. Kipps, U. Seligsohn, K. Kaushansky, J.T. Prchal (Eds.).
7. Maegawa G.H., Tropak M.B., Buttner J.D., et al. Identification and characterization of ambroxol as an enzyme-enhancement agent for Gaucher disease. J. Biol. Chem. 2009, 284:23502-23516.
8. Ratjen F., Wönne R., Posselt H.G., Stöver B., Hofmann D., Bender S.W. A double-blind placebo controlled trial with oral ambroxol and N-acetylcysteine for mucolytic treatment in cystic fibrosis. Eur. J. Pediatr. 1985, 144:374-378.
9. Laoag-Fernandez J.B., Fernandez A.M., Maruo T. Antenatal use of ambroxol for the prevention of infant respiratory distress syndrome. J. Obstet. Gynaecol. Res. 2000, 26:307-312.
10. Luan Z., Li L., Higaki K., Nanba E., Suzuki Y., Ohno K. The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice. Brain Dev. Jun 7 2012, [Epub ahead of print].
11. Hollak C.E.M., van Weely S., van Oers M.H.J., Aerts J.M.F.G. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J. Clin. Invest. 1994, 98:1288-1292.
12. Elstein D., Abrahamov A., Hadas-Halpern I., Meyer A., Zimran A. Low-dose low-frequency imiglucerase as a starting regimen of enzyme replacement therapy for patients with type I Gaucher disease. Q. J. Med. 1998, 91:483-488.
13. Chang H.H., Asano N., Ishii S., Ichikawa Y., Fan J.Q. Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients. FEBS J. 2006, 273:4082-4092.
14. Khanna R., Benjamin E.R., Pellegrino L., et al. The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase. FEBS J. 2010, 277:1618-1638.
15. Li Q., Yao G., Zhu X. High-dose ambroxol reduces pulmonary complications in patients with acute cervical spinal cord injury after surgery. Neurocrit. Care 2012, 16:267-272.
16. Gibbs B.F. Differential modulation of IgE-dependent activation of human basophils by ambroxol and related secretolytic analogues. Int. J. Immunopathol. Pharmacol. 2009, 22:919-927.
17. Fischer J., Pschorn U., Vix J.M., et al. Efficacy and tolerability of ambroxol hydrochloride lozenges in sore throat. Randomised, double-blind, placebo-controlled trials regarding the local anaesthetic properties. Arzneimittelforschung 2002, 52:256-263.
18. Gaida W., Klinder K., Arndt K., Weiser T. Ambroxol, a Nav1.8-preferring Na(+) channel blocker, effectively suppresses pain symptoms in animal models of chronic, neuropathic and inflammatory pain. Neuropharmacology 2005, 49:1220-1227.
19. Hama A.T., Plum A.W., Sagen J. Antinociceptive effect of ambroxol in rats with neuropathic spinal cord injury pain. Pharmacol. Biochem. Behav. 2012, 97:249-255.
20. Monzón S., Del Mar Garcés M., Lezaun A., Fraj J., Asunción Dominguez M., Colás C. Ambroxol-induced systemic contact dermatitis confirmed by positive patch test. Allergol. Immunopathol. (Madr) 2009, 37:167-168.
21. Guitard M., Giannoli C., Bachet P., Vial T. Ambroxol-induced immune hemolytic anemia. Rev. Med. Interne 2006, 27:797-798.
22. Saad N., Guillot I., Vautrin C., et al. Ambroxol-induced toxicoderma. Ann. Dermatol. Venereol. 2006, 133:181-182.
23. Drewa T., Misterek B., Pachnowska H., Wolski Z., Mikulska-Jovanovic M., Drewa J. Parenteral ambroxol treatment causes xanthine and calcium oxalate stones in rats. Int. J. Urol. 2007, 14:463-465.
24. Beeh K.M., Beier J., Esperester A., Paul L.D. Antiinflammatory properties of ambroxol. Eur. J. Med. Res. 2008, 13:557-562.
25. Mistry P.K., Liu J., Yang M., et al. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc. Natl. Acad. Sci. U. S. A. 2010, 107:19473-19478.
26. Sawkar A.R., D'Haeze W., Kelly J.W. Therapeutic strategies to ameliorate lysosomal storage disorders-a focus on Gaucher disease. Cell. Mol. Life Sci. 2006, 63:1179-1192.
27. Aguilar-Moncayo M., García-Moreno M.I., Trapero A., et al. Bicyclic (galacto)nojirimycin analogues as glycosidase inhibitors: effect of structural modifications in their pharmacological chaperone potential towards β-glucocerebrosidase. Org. Biomol. Chem. 2011, 9:3698-3713.
28. Babajani G., Tropak M.B., Mahuran D.J., Kermode A.R. Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant. Mol. Genet. Metab. 2012, 106:323-329.
29. Bendikov-Bar I., Ron I., Filocamo M., Horowitz M. Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant. Blood Cells Mol. Dis. 2011, 46:4-10.
30. Malerba M., Ragnoli B. Ambroxol in the 21st century: pharmacological and clinical update. Expert Opin. Drug Metab. Toxicol. 2008, 4:1119-1129.
31. Heitner R., Elstein D., Aerts J., van Weely S., Zimran A. Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease. Blood Cells Mol. Dis. 2002, 28:127-133.
32. Cox T., Lachmann R., Hollak C., et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000, 355:1481-1485.
33. Patterson M.C., Horowitz M., Abel R.B., et al. Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease. Neurology 1993, 43:1993-1997.
34. Capablo J.L., Franco R., de Cabezón A.S., Alfonso P., Pocovi M., Giraldo P. Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination. Epilepsia 2007, 48:1406-1408.
35. Elstein D., Guedalia J., Doniger G.M., et al. Computerized cognitive testing in patients with type I Gaucher disease: effects of enzyme replacement and substrate reduction. Genet. Med. 2005, 7:124-130.
36. Zimran A., Sorge G., Gross E., Kubitz M., West C., Beutler E. Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet 1989, 2:349-352.