Enzyme replacement therapy (ERT) procedure for mucopolysaccharidosis type II (MPS II) by intraventricular administration (IVA) in murine MPS II

Molecular Genetics and Metabolism

Volumn 107, Issue 1-2, 2012, Pages 122-128

  Higuchi, Takashi ^a   Shimizu, Hiromi ^a,b   Fukuda, Takahiro ^a   Kawagoe, Shiho ^a   Matsumoto, Juri ^a   Shimada, Yohta ^a   Kobayashi, Hiroshi ^a   Ida, Hiroyuki ^a   Ohashi, Toya ^a   Morimoto, Hideto ^c   Hirato, Tohru ^c   Nishino, Katsuya ^c   Eto, Yoshikatsu ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b WASEDA UNIVERSITY   (Japan)

^c JCR Pharmaceuticals Co Ltd   (Japan)

Author keywords

Enzyme replacement therapy; Hunter syndrome; Iduronate 2 sulfatase; Intraventricular; Lysosomal storage disease; Mucopolysaccharidosis

Indexed keywords

GLYCOSAMINOGLYCAN; IDURONATE 2 SULFATASE; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BLOOD BRAIN BARRIER; BRAIN NERVE CELL; CELL VACUOLE; CONTROLLED STUDY; CYTOSOL; DRUG EFFICACY; ENZYME ACTIVITY; ENZYME REPLACEMENT; GENE OVEREXPRESSION; HISTOPATHOLOGY; HUNTER SYNDROME; KIDNEY TUBULE CELL; LEARNING; LEYDIG CELL; LIVER; LIVER CELL; MALE; MAZE TEST; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PURKINJE CELL; SHORT TERM MEMORY; SPLEEN; TESTIS;

ANIMALS; BEHAVIOR, ANIMAL; BRAIN; DISEASE MODELS, ANIMAL; ENZYME REPLACEMENT THERAPY; IDURONATE SULFATASE; LIVER; MALE; MAZE LEARNING; MICE; MICE, KNOCKOUT; MUCOPOLYSACCHARIDOSIS II; PHENOTYPE; TESTIS; TREATMENT OUTCOME;

MURINAE; MUS;

EID: 84866171251     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.05.005     Document Type: Article

References (33)

1. Scarpa M., Almássy Z., Beck M., Bodamer O., Bruce I.A., De Meirleir L., Guffon N., Guillén-Navarro E., Hensman P., Jones S., Kamin W., Kampmann C., Lampe C., Lavery C.A., Leão Teles E., Link B., Lund A.M., Malm G., Pitz S., Rothera M., Stewart C., Tylki-Szymańska A., van der Ploeg A., Walker R., Zeman J., Wraith J.E. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J. Rare Dis. 2011, 6:72.
2. Okuyama T., Tanaka A., Suzuki Y., Ida H., Tanaka T., Cox G.F., Eto Y., Orii T. Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). Mol. Genet. Metab. 2010, 99:18-25.
3. Papadia F., Lozupone M.S., Gaeta A., Capodiferro D., Lacalendola G. Long-term enzyme replacement therapy in a severe case of mucopolysaccharidosis type II (Hunter syndrome). Eur. Rev. Med. Pharmacol. Sci. 2011, 15:253-258.
4. Donaldson J., Khan W.S., Tailor H., Hughes D.A., Mehta A.M., Maruthainar N. Gaucher disease: outcome following total hip replacements and effect of enzyme replacement therapy in a cohort of UK patients. Hip Int. 2011, 21:665-671.
5. Angelini C., Semplicini C. Enzyme replacement therapy for Pompe disease. Curr. Neurol. Neurosci. Rep. 2012, 12:70-75.
6. Desnick R.C., Banikazemi M. Fabry disease: clinical spectrum and evidence-based enzyme replacement therapy. Nephrol. Ther. 2006, 2:172-185.
7. Newkirk K.M., Atkins R.M., Dickson P.I., Rohrbach B.W., McEntee M.F. Ocular lesions in canine mucopolysaccharidosis I and response to enzyme replacement therapy. Invest. Ophthalmol. Vis. Sci. 2011, 11:5130-5135.
8. Glamuzina E., Fettes E., Bainbridge K., Crook V., Finnegan N., Abulhoul L., Vellodi A. Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points. J. Inherit. Metab. Dis. 2011, 34:749-754.
9. Valayannopoulos V., Nicely H., Harmatz P., Turbeville S. Mucopolysaccharidosis VI. Orphanet J. Rare Dis. 2010, 12:5.
10. Al Sawaf S., Mayatepek E., Hoffmann B. Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. J. Inherit. Metab. Dis. 2008, 31:473-480.
11. Zhou Q., Boado R.J., Lu J.Z., Hui E.K., Pardridge W.M. Brain-penetrating IgG-iduronate 2-sulfatase fusion protein for the mouse. Drug Metab. Dispos. 2012, 40:329-335.
12. Tsuji D., Akeboshi H., Matsuoka K., Yasuoka H., Miyasaki E., Kasahara Y., Kawashima I., Chiba Y., Jigami Y., Taki T., Sakuraba H., Itoh K. Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis. Ann. Neurol. 2011, 69:691-701.
13. Dickson P., McEntee M., Vogler C., Le S., Levy B., Peinovich M., Hanson S., Passage M., Kakkis E. Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid. Mol. Genet. Metab. 2007, 91:61-68.
14. Cardone M., Polito V.A., Pepe S., Mann L., D'Azzo A., Auricchio A., Ballabio A., Cosma M.P. Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery. Hum. Mol. Genet. 2006, 1:1225-1236.
15. Garcia A.R., DaCosta J.M., Pan J., Muenzer J., Lamsa J.C. Preclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS II. Mol. Genet. Metab. 2007, 91:183-190.
16. Schmaltz K., Katz R.J. Y-maze behavior in the mouse after morphine or an enkephalin analog. Psychopharmacology (Berl) 1981, 74:99-100.
17. Washida K., Ihara M., Nishio K., Fujita Y., Maki T., Yamada M., Takahashi J., Wu X., Kihara T., Ito H., Tomimoto H., Takahashi R. Nonhypotensive dose of telmisartan attenuates cognitive impairment partially due to peroxisome proliferator-activated receptor-gamma activation in mice with chronic cerebral hypoperfusion. Stroke 2010, 41:1798-1806.
18. Kawagoe S., Higuchi T., Meng X.L., Shimada Y., Shimizu H., Hirayama R., Fukuda T., Chang H., Nakahata T., Fukada S., Ida H., Kobayashi H., Ohashi T., Eto Y. Generation of induced pluripotent stem (iPS) cells derived from a murine model of Pompe disease and differentiation of Pompe-iPS cells into skeletal muscle cells. Mol. Genet. Metab. 2011, 104:123-128.
19. Shimada Y., Nishida H., Nishiyama Y., Kobayashi H., Higuchi T., Eto Y., Ida H., Ohashi T. Proteasome inhibitors improve the function of mutant lysosomal α-glucosidase in fibroblasts from Pompe disease patient carrying c.546G>T mutation. Biochem. Biophys. Res. Commun. 2011, 18:274-278.
20. Fukuda T., Akiyama N., Ikegami M., Takahashi H., Sasaki A., Oka H., Komori T., Tanaka Y., Nakazato Y., Akimoto J., Tanaka M., Okada Y., Saito S. Expression of hydroxyindole-O-methyltransferase enzyme in the human central nervous system and in pineal parenchymal cell tumors. J. Neuropathol. Exp. Neurol. 2010, 69:498-510.
21. Demitsu T., Kakurai M., Okubo Y., Shibayama C., Kikuchi Y., Mori Y., Sukegawa K., Mizuguchi M. Skin eruption as the presenting sign of Hunter syndrome IIB. Clin. Exp. Dermatol. 1999, 24:179-182.
22. Kordower J.H., Palfi S., Chen E.Y., Ma S.Y., Sendera T., Cochran E.J., Mufson E.J., Penn R., Goetz C.G., Comella C.D. Clinicopathological findings following intraventricular glial-derived neurotrophic factor treatment in a patient with Parkinson's disease. Ann. Neurol. 1999, 46:419-424.
23. Link B., de Camargo Pinto L.L., Giugliani R., Wraith J.E., Guffon N., Eich E., Beck M. Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey. Orthop. Rev. (Pavia) 2010, 23:56-64.
24. Garcia A.R., Pan J., Lamsa J.C., Muenzer J. The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome). J. Inherit. Metab. Dis. 2007, 30:924-934.
25. Polito V.A., Cosma M.P. IDS crossing of the blood-brain barrier corrects CNS defects in MPSII mice. Am. J. Hum. Genet. 2009, 85:296-301.
26. Jung S.C., Park E.S., Choi E.N., Kim C.H., Kim S.J., Jin D.K. Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy. Mol. Cells 2010, 30:13-18.
27. Polito V.A., Abbondante S., Polishchuk R.S., Nusco E., Salvia R., Cosma M.P. Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy. Hum. Mol. Genet. 2010, 15:4871-4885.
28. Wang R.Y., Cambray-Forker E.J., Ohanian K., Karlin D.S., Covault K.K., Schwartz P.H., Abdenur J.E. Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II. Mol. Genet. Metab. 2009, 98:406-411.
29. Mignot C. Clinical aspects of early-stage neurological forms of Gaucher disease. Rev. Med. Interne 2006, 1:14-17.
30. Pastores G.M. Krabbe disease: an overview. Int. J. Clin. Pharmacol. Ther. 2009, 47:75-81.
31. Gieselmann V., Krägeloh-Mann I. Metachromatic leukodystrophy-an update. Neuropediatrics 2010, 41:1-6.
32. Chen C.P., Lin S.P., Tzen C.Y., Hwu W.L., Chern S.R., Chuang C.K., Chiang S.S., Wang W. Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome). Genet. Couns. 2007, 18:49-56.
33. Wraith J.E., Beck M., Giugliani R., Clarke J., Martin R., Muenzer J., HOS Investigators Initial report from the Hunter Outcome Survey. Genet. Med. 2008, 10:508-516.