Biomarker analysis of Morquio syndrome: Identification of disease state and drug responsive markers

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Martell, Lisa ^a   Lau, Kelly ^a   Mei, Miranda ^a   Burnett, Vicki ^b   Decker, Celeste ^a   Foehr, Erik D ^a  

^a BIOMARIN PHARMACEUTICAL INC   (United States)

^b SciWit Inc   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN; BIOLOGICAL MARKER; BMN 110; EOTAXIN; GELATINASE A; KERATAN SULFATE; LIPOPROTEIN A; N ACETYLGALACTOSAMINE 6 SULFATASE; SERUM AMYLOID P; UNCLASSIFIED DRUG; GALNS PROTEIN, HUMAN; KERATIN; N ACETYLGALACTOSAMINE 4 SULFATASE; SERPINA1 PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DRUG DOSE ESCALATION; DRUG RESPONSE; ENZYME REPLACEMENT; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; MORQUIO SYNDROME; PROTEIN BLOOD LEVEL; BLOOD; CLINICAL TRIAL; DOSE RESPONSE; METABOLISM; METHODOLOGY; MIDDLE AGED; MUCOPOLYSACCHARIDOSIS; MULTICENTER STUDY; PATHOPHYSIOLOGY; TREATMENT OUTCOME; URINE;

ADULT; AGED; ALPHA 1-ANTITRYPSIN; BIOLOGICAL MARKERS; CHONDROITINSULFATASES; DISEASE PROGRESSION; DOSE-RESPONSE RELATIONSHIP, DRUG; ENZYME REPLACEMENT THERAPY; FEMALE; HUMANS; KERATINS; LIPOPROTEIN(A); MALE; MIDDLE AGED; MUCOPOLYSACCHARIDOSES; MUCOPOLYSACCHARIDOSIS IV; SERUM AMYLOID P-COMPONENT; TREATMENT OUTCOME; YOUNG ADULT;

EID: 83455186052     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-84     Document Type: Article

References (27)

1. International Morquio A Registry: Clinical manifestation and natural course of Morquio disease. Montano AM, Tomatsu S, Gottesman GS, Smith M, Orii T, J Inherit Metab Dis 2007 30 165 174 10.1007/s10545-007-0529-7 17347914 (Pubitemid 46487997)
2. Morquio syndrome. Lankaster BJA, Whitehouse M, Gargan MF, Curr Orthop 2006 20 128 131 10.1016/j.cuor.2005.12.003 (Pubitemid 43815594)
3. A multicenter, multinational, longitudinal clinical assessment study of subjects with mucopolysaccharidosis IVA (Morquio syndrome). Harmatz P, Chang M, Decker C, et al. Poster presented at the Society of the Study of Inborn Errors of Metabolism (SSIEM) 2010 Meeting. Istanbul 2010
4. Current enzyme replacement therapy for the treatment of lysosomal storage diseases. Lim-Melia ER, Kronn DF, Pediatr Ann 2009 38 448 455 10.3928/00904481-20090723-09 19725195
5. Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns -/-) produced by targeted disruption of the gene defective in Morquio A disease. Tomatsu S, Orii KO, Vogler C, et al. Hum Mol Genet 2003 12 3349 3358 10.1093/hmg/ddg366 14583446 (Pubitemid 37541080)
6. Enzyme replacement therapy in a murine model of Morquio A syndrome. Tomatsu S, Montano A, Ohashi A, et al. Hum Mol Genet 2008 17 815 824 18056156 (Pubitemid 351359698)
7. A phase 1/2, multicenter, open-label, dose escalation study to evaluate the safety, tolerability, and efficacy of BMN110 in subjects with mucopolysaccharidosis IVA. BioMarin Pharmaceuticals Inc., Clinical study protocol, NCT00884949
8. A double-blind study to evaluate the efficacy and safety of BMN110 in patients with mucopolysaccharidosis IVA. BioMarin Pharmaceuticals Inc., Clinical study protocol, NCT01275066
9. Validation of keratin sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry. Tomatsu S, Montano AM, Oguma T, et al. J Inherit Metab Dis 2010
10. Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice. Dvorak-Ewell M, Wendt D, Hague C, et al. PLOS ONE 2010 5 8 12194 10.1371/journal.pone.0012194 20808938
11. Validation of an LC/MS/MS assay for detecting relevant disaccharides from keratan sulfate as a biomarker for Morquio syndrome. Argento-Martell L, Cunico RL, Ohh J, Furneaux RH, Foehr ED, Bioanalysis 2011 3 1855 1866 10.4155/bio.11.172 21877895
12. Development and testing of a new screening method for keratan sulfate in mucopolysaccharidosis IVA. Tomatsu S, Okamura K, Taketani T, et al. Pediatr Res 2004 55 592 597 10.1203/01.PDR.0000113767.60140.E9 14711889 (Pubitemid 38405845)
13. Proteomic analysis of potential keratan sulfate, chondroitin sulfate A, and hyaluronic acid molecular interactions. Conrad AH, Zhang Y, Tasheva ES, Conrad GW, Invest Ophthamol Vis Sci 2010 51 4500 4515 10.1167/iovs.09-4914
14. Collagenolytic activity in MPSI contributes to osteoclast and growth plate abnormalities. Wilson S, Hashamiyan S, Clarke L, et al. Am J Pathol 2009 175 2053 2062 10.2353/ajpath.2009.090211 19834056
15. Hereditary alph-1-antitrypsin deficiency and its clinical consequences. Fregonese L, Stolk J, Orphanet J Rare Dis 2008 3 16 10.1186/1750-1172-3-16 18565211
16. Serum amyloid P aids complement mediated immunity to Streptococcus pneumonia. Yuste J, Botto M, Bottoms SE, Brown JS, PLOS Patholog 2007 3 e120.doi:10
17. Lipoprotein(a): From molecules to therapeutics. Bermudez V, Arraiz N, Aparicio D, et al. Am J Ther 2010 17 263 273 10.1097/MJT.0b013e3181e00bf1 20479580
18. Interpreting lipid levels in the context of high-grade inflammatory states with a focus on rheumatoid arthritis: a challenge to conventional cardiovascular risk factors. Choy E, Sattar N, Ann Rheum Dis 2009 68 460 469 10.1136/ard.2008.101964 19286905
19. Altered lipoprotein metabolism in chronic inflammatory states: proinflammatory high-density lipoprotein and accelerated atherosclerosis in systemic lupus erythematosus and rheumatoid arthritis. Hahn BH, Grossman J, Ansell BJ, et al. Arthritis Res Ther 2008 10 213 10.1186/ar2471 18828865
20. Lipids and inflammation: serial measurements of the lipid profile of blood donors who later developed rheumatoid arthritis. Van Halm VP, Nielen MM, Nurmohamed NT, et al. Ann Rheum Dis 2007 66 184 188 16760255 (Pubitemid 46226052)
21. Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Cimaz R, Coppa GV, Kone-Paut I, et al. Pediatr Rheumatol Online J 2009 7 18 10.1186/1546-0096-7-18 19852785
22. Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI. Tessitore A, Pirozzi M, Auricchio A, Pathogenetics 2009 2 4 doi:10.1186/1755-8417-2-4
23. Tumor necrosis factor alpha activation of the apoptotic cascade in murine articular chondrocytes is associated with the induction of metalloproteinases and specific pro-resorptive factors. Cho T-J, Lehmann W, Edgar C, et al. Arthitis Rheum 2003 48 2845 2854 10.1002/art.11390 (Pubitemid 37280613)
24. Early rheumatoid arthritis. Machold KP, Nell V, Stamm T, Aletaha D, Smolen JS, Curr Opin Rheutmatol 2006 18 282 288 10.1097/01.bor.0000218950.27483. 80 (Pubitemid 43740381)
25. Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up. Gabrielli O, Clarke LA, Bruni S, Coppa GV, Pediatrics 2010 125 183 e187 10.1542/peds.2009-1728 20026495
26. Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age-a sibling control study. McGill JJ, Inwood AC, Coman DJ, et al. Clin Genet 2010 77 492 498 10.1111/j.1399-0004.2009.01324.x 19968667
27. Enzyme reconstitution/replacement therapy for lysosomal storage diseases. Burrow TA, Hopkin RJ, Leslie ND, Tinkle BT, Grabowski GA, Curr Opin Pediatr 2007 19 628 635 10.1097/MOP.0b013e3282f161f2 18025928 (Pubitemid 350145229)