The effect of neonatal gene therapy with a gamma retroviral vector on cardiac valve disease in mucopolysaccharidosis VII dogs after a decade

Molecular Genetics and Metabolism

Volumn 110, Issue 3, 2013, Pages 311-318

  Bigg, Paul W ^a   Sleeper, Meg M ^b   O'Donnell, Patricia A ^b   Liu, Yuli ^a   Wu, Susan ^a   Casal, Margret L ^b   Haskins, Mark E ^b   Ponder, Katherine P ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Cardiac disease; Gene therapy; Lysosomal storage disease; Mucopolysaccharidosis; Retroviral vector

Indexed keywords

BETA GLUCURONIDASE; RETROVIRUS VECTOR;

AORTA VALVE; AORTA VALVE REGURGITATION; ARTICLE; DOG; DRUG EFFECT; ENZYME ACTIVITY; ENZYME REPLACEMENT; FEMALE; GENE THERAPY; MALE; MITRAL VALVE; MITRAL VALVE REGURGITATION; MUCOPOLYSACCHARIDOSIS TYPE 7; NONHUMAN; PRIORITY JOURNAL; VALVULAR HEART DISEASE;

CANIS FAMILIARIS;

CARDIAC DISEASE; GENE THERAPY; LYSOSOMAL STORAGE DISEASE; MUCOPOLYSACCHARIDOSIS; RETROVIRAL VECTOR;

ANIMALS; ANIMALS, NEWBORN; AORTIC VALVE; DISEASE MODELS, ANIMAL; DOGS; ECHOCARDIOGRAPHY; FEMALE; GAMMARETROVIRUS; GENETIC THERAPY; GENETIC VECTORS; GLUCURONIDASE; HEART VALVE DISEASES; MALE; MITRAL VALVE; MUCOPOLYSACCHARIDOSIS VII;

EID: 84885434041     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.06.015     Document Type: Article

References (37)

1. Neufeld E.F., Muenzer J. The mucopolysaccharidoses. Metabolic and Molecular Basis of Inherited Disease 2001, 3421-3452. McGraw Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
2. Meikle P.J., Hopwood J.J., Clague A.E., Carey W.F. Prevalence of lysosomal storage disorders. JAMA 1999, 281:249-254.
3. Braunlin E.A., Harmatz P.R., Scarpa M., Furlanetto B., Kampmann C., Loehr J.P., Ponder K.P., Roberts W.C., Rosenfeld H.M., Giugliani R. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J. Inherit. Metab. Dis. 2011, 34:1183-1197.
4. Wippermann C.F., Beck M., Schranz D., Huth R., Michel-Behnke I., Jüngst B.K. Mitral and aortic regurgitation in 84 patients with mucopolysaccharidoses. Eur. J. Pediatr. 1995, 154:98-101.
5. Fesslová V., Corti P., Sersale G., Rovelli A., Russo P., Mannarino S., Butera G., Parini R. The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses. Cardiol. Young 2009, 19:170-178.
6. Dangel J.H. Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders-clinical and echocardiographic findings in 64 patients. Eur. J. Pediatr. 1998, 157:534-538.
7. Soliman O.I., Timmermans R.G., Nemes A., Vletter W.B., Wilson J.H., ten Cate F.J., Geleijnse M.L. Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I. J. Inherit. Metab. Dis. 2007, 30:750-757.
8. Beaudet A.L., DiFerrante N.M., Ferry G.D., Nichols B.L., Mullins C.E. Variation in the phenotypic expression of beta-glucuronidase deficiency. J. Pediatr. 1975, 86:388-394.
9. Sly W.S., Quinton B.A., McAlister W.H., Rimoin D.L. Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. J. Pediatr. 1973, 82:249-257.
10. Vogler C., Levy B., Kyle J.W., Sly W.S., Williamson J., Whyte M.P. Mucopolysaccharidosis VII: postmortem biochemical and pathological findings in a young adult with beta-glucuronidase deficiency. Mod. Pathol. 1994, 7:132-137.
11. Schroeder L., Orchard P., Whitley C.B., Berry J.M., Tolar J., Miller W., Braunlin E.A. Cardiac ultrasound findings in infants with severe (Hurler phenotype) untreated mucopolysaccharidosis (MPS) type I. JIMD Rep. 2013, 10:87-94.
12. Arn P., Wraith J.E., Underhill L. Characterization of surgical procedures in patients with mucopolysaccharidosis type I: findings from the MPS I Registry. J. Pediatr. 2009, 154:859-864.
13. Grigull L., Sykora K.W., Tenger A., Bertram H., Meyer-Marcotty M., Hartmann H., Bültmann E., Beilken A., Zivicnjak M., Mynarek M., Osthaus A.W., Schilke R., Kollewe K., Lücke T. Variable disease progression after successful stem cell transplantation: prospective follow-up investigations in eight patients with Hurler syndrome. Pediatr. Transplant. 2011, 15:861-869.
14. Watanabe N., Anagnostopoulos P.V., Azakie A. Aortic stenosis in a patient with Hurler's syndrome after bone marrow transplantation. Cardiol. Young 2011, 21:349-350.
15. Braunlin E.A., Stauffer N.R., Peters C.H., Bass J.L., Berry J.M., Hopwood J.J., Krivit W. Usefulness of bone marrow transplantation in the Hurler syndrome. Am. J. Cardiol. 2003, 92:882-886.
16. Gompf R.E., Shull R.M., Breider M.A., Scott J.A., Constantopoulos G.C. Cardiovascular changes after bone marrow transplantation in dogs with mucopolysaccharidosis I. Am. J. Vet. Res. 1990, 51:2054-2060.
17. Sammarco C., Weil M., Just C., Weimelt S., Hasson C., O'Malley T., Evans S.M., Wang P., Casal M.L., Wolfe J., Haskins M. Effects of bone marrow transplantation on the cardiovascular abnormalities in canine mucopolysaccharidosis VII. Bone Marrow Transplant. 2000, 25:1289-1297.
18. Braunlin E.A., Berry J.M., Whitley C.B. Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I. Am. J. Cardiol. 2006, 98:416-418.
19. Brands M.M., Frohn-Mulder I.M., Hagemans M.L., Hop W.C., Oussoren E., Helbing W.A., van der Ploeg A.T. Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI. J. Inherit. Metab. Dis. 2013, 36:227-234.
20. Sifuentes M., Doroshow R., Hoft R., Mason G., Walot I., Diament M., Okazaki S., Huff K., Cox G.F., Swiedler S.J., Kakkis E.D. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6years. Mol. Genet. Metab. 2007, 90:171-180.
21. Braunlin E., Rosenfeld H., Kampmann C., Johnson J., Beck M., Giugliani R., Guffon N., Ketteridge D., Sá Miranda C.M., Scarpa M., Schwartz I.V., Leão Teles E., Wraith J.E., Barrios P., Dias da Silva E., Kurio G., Richardson M., Gildengorin G., Hopwood J.J., Imperiale M., Schatz A., Decker C., Harmatz P., MPS VI Study Group Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme(®)) therapy. J. Inherit. Metab. Dis. 2013, 36:385-394.
22. Furujo M., Kubo T., Kosuga M., Okuyama T. Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. Mol. Genet. Metab. 2011, 104:597-602.
23. Leal G.N., de Paula A.C., Morhy S.S., Andrade J.L., Kim C.A. Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings. Cardiol. Young Mar 5 2013, 1-7.
24. McGill J.J., Inwood A.C., Coman D.J., Lipke M.L., de Lore D., Swiedler S.J., Hopwood J.J. Enzyme replacement therapy for mucopolysaccharidosis VI from 8weeks of age-a sibling control study. Clin. Genet. 2010, 77:492-498.
25. Dierenfeld A.D., McEntee M.F., Vogler C.A., Vite C.H., Chen A.H., Passage M., Le S., Shah S., Jens J.K., Snella E.M., Kline K.L., Parkes J.D., Ware W.A., Moran L.E., Fales-Williams A.J., Wengert J.A., Whitley R.D., Betts D.M., Boal A.M., Riedesel E.A., Gross W., Ellinwood N.M., Dickson P.I. Replacing the enzyme alpha-l-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I. Sci. Total. Environ. 2010, 2:60ra89.
26. Ponder K.P., Haskins M.E. Gene therapy for mucopolysaccharidosis. Expert. Opin. Biol. Ther. 2007, 7:1333-1345.
27. Ponder K.P., Melniczek J.R., Xu L., Weil M.A., O'Malley T.M., O'Donnell P.A., Knox V.W., Aguirre G.D., Mazrier H., Ellinwood N.M., Sleeper M., Maguire A.M., Volk S.W., Mango R.L., Zweigle J., Wolfe J.H., Haskins M.E. Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs. Proc. Natl. Acad. Sci. U. S. A. 2002, 99:13102-13107.
28. Smith L.J., Martin J.T., O'Donnell P., Wang P., Elliott D.M., Haskins M.E., Ponder K.P. Effect of neonatal gene therapy on lumbar spine disease in mucopolysaccharidosis VII dogs. Mol. Genet. Metab. 2012, 107:145-152.
29. Xu L., Haskins M.E., Melniczek J.R., Gao C., Weil M.A., O'Malley T.M., O'Donnell P.A., Mazrier H., Ellinwood N.M., Zweigle J., Wolfe J.H., Ponder K.P. Transduction of hepatocytes after neonatal delivery of a Moloney murine leukemia virus based retroviral vector results in long-term expression of beta-glucuronidase in mucopolysaccharidosis VII dogs. Mol. Ther. 2002, 5:141-153.
30. Sleeper M.M., Fornasari B., Ellinwood N.M., Weil M.A., Melniczek J., O'Malley T.M., Sammarco C.D., Xu L., Ponder K.P., Haskins M.E. Gene therapy ameliorates cardiovascular disease in dogs with mucopolysaccharidosis VII. Circulation 2004, 110:815-820.
31. Metcalf J.A., Linders B., Wu S., Bigg P., O'Donnell P., Sleeper M.M., Whyte M.P., Haskins M., Ponder K.P. Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression. Mol. Genet. Metab. 2010, 99:396-407.
32. Ponder K.P., O'Malley T.M., Wang P., O'Donnell P.A., Traas A.M., Knox V.W., Aguirre G.A., Ellinwood N.M., Metcalf J.A., Wang B., Parkinson-Lawrence E.J., Sleeper M.M., Brooks D.A., Hopwood J.J., Haskins M.E. Neonatal gene therapy with a gamma retroviral vector in mucopolysaccharidosis VI cats. Mol. Ther. 2012, 20:898-907.
33. Traas A.M., Wang P., Ma X., Tittiger M., Schaller L., O'donnell P., Sleeper M.M., Vite C., Herati R., Aguirre G.D., Haskins M., Ponder K.P. Correction of clinical manifestations of canine mucopolysaccharidosis I with neonatal retroviral vector gene therapy. Mol. Ther. 2007, 15:1423-1431.
34. Ray J., Bouvet A., DeSanto C., Fyfe J.C., Xu D., Wolfe J.H., Aguirre G.D., Patterson D.F., Haskins M.E., Henthorn P.S. Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells. Genomics 1998, 48:248-253.
35. Fox P.R. Pathology of myxomatous mitral valve disease in the dog. J. Vet. Cardiol. 2012, 14:103-126.
36. Borgarelli M., Haggstrom J. Canine degenerative myxomatous mitral valve disease: natural history, clinical presentation and therapy. Vet. Clin. North Am. Small Anim. Pract. 2010, 40:651-663.
37. Renteria V.G., Ferrans V.J., Roberts W.C. The heart in the Hurler syndrome: gross, histologic and ultrastructural observations in five necropsy cases. Am. J. Cardiol. 1976, 38:487-501.