Improvement of CNS Defects Via Continuous Intrathecal Enzyme Replacement by Osmotic Pump in Mucopolysaccharidosis Type II Mice

American Journal of Medical Genetics, Part A

Volumn 161, Issue 5, 2013, Pages 1036-1043

  Sohn, Young Bae ^a   Lee, Jeehun ^b   Cho, Sung Yoon ^b   Kim, Su Jin ^c   Ko, Ah Ra ^d   Nam, Mi Hyun ^d   Jin, Dong Kyu ^b  

^a Ajou University School of Medicine   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

^c Kwandong University College of Medicine   (South Korea)

^d Samsung Medical Center   (South Korea)

Author keywords

Central nervous system; Continuous intrathecal infusion; Enzyme replacement therapy; Mucopolysaccharidosis type II

Indexed keywords

GLYCOSAMINOGLYCAN; IDURONATE 2 SULFATASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN CORTEX; BRAIN NERVE CELL; CONTINUOUS INFUSION; CONTROLLED STUDY; DOSE RESPONSE; DRUG DELIVERY DEVICE; DRUG EFFICACY; DRUG MEGADOSE; ENZYME REPLACEMENT; FEMALE; HISTOPATHOLOGY; HUNTER SYNDROME; IMMUNOHISTOCHEMISTRY; LOW DRUG DOSE; MALE; MOUSE; NEUROLOGIC DISEASE; NICK END LABELING; NONHUMAN; OSMOTIC PUMP; PRIORITY JOURNAL;

ANIMALS; BRAIN; DISEASE MODELS, ANIMAL; ENZYME REPLACEMENT THERAPY; GLYCOSAMINOGLYCANS; HUMANS; IDURONATE SULFATASE; INJECTIONS, SPINAL; MALE; MICE; MUCOPOLYSACCHARIDOSIS II;

MUS;

EID: 84876801706     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35869     Document Type: Article

References (33)

1. Al Sawaf S, Mayatepek E, Hoffmann B. 2008. Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed. J Inherit Metab Dis 31:473-480.
2. Ashwell G, Harford J. 1982. Carbohydrate-specific receptors of the liver. Annu Rev Biochesm 51:531-554.
3. Auclair D, Finnie J, White J, Nielsen T, Fuller M, Kakkis E, Cheng A, O'Neill CA, Hopwood JJ. 2010. Repeated intrathecal injections of recombinant human 4-sulphatase remove dural storage in mature mucopolysaccharidosis VI cats primed with a short-course tolerisation regimen. Mol Genet Metab 99:132-141.
4. Auclair D, Finnie J, Walkley SU, White J, Nielsen T, Fuller M, Cheng A, O'Neill CA, Hopwood JJ. 2012. Intrathecal recombinant human 4-sulfatase reduces accumulation of glycosaminoglycans in dura of mucopolysaccharidosis VI cats. Pediatr Res 71:39-45.
5. Bove KE, Daugherty C, Grabowski GA. 1995. Pathological findings in Gaucher disease type 2 patients following enzyme therapy. Hum Pathol 26:1040-1045.
6. Butt MT. 2011. Morphologic changes associated with intrathecal catheters for direct delivery to the central nervous system in preclinical studies. Toxicol Pathol 39:213-219.
7. Calias P, Papisov M, Pan J, Savioli N, Belov V, Huang Y, Lotterhand J, Alessandrini M, Liu N, Fischman AJ, Powell JL, Heartlein MW. 2012. CNS penetration of intrathecal-lumbar idursulfase in the monkey, dog and mouse: Implications for neurological outcomes of lysosomal storage disorder. PLoS ONE 7:e30341.
8. Felice BR, Wright TL, Boyd RB, Butt MT, Pfeifer RW, Pan J, Ruiz JA, Heartlein MW, Calias P. 2011. Safety evaluation of chronic intrathecal administration of idursulfase-IT in cynomolgus monkeys. Toxicol Pathol 39:879-892.
9. Ghosh P, Dahms NM, Kornfeld S. 2003. Mannose 6-phosphate receptors: New twists in the tale. Nat Rev Mol Cell Biol 4:202-212.
10. Hamano K, Hayashi M, Shioda K, Fukatsu R, Mizutani S. 2008. Mechanisms of neurodegeneration in mucopolysaccharidoses II and IIIB: Analysis of human brain tissue. Acta Neuropathol 115:547-559.
11. Hemsley KM, Hopwood JJ. 2009. Delivery of recombinant proteins via the cerebrospinal fluid as a therapy option for neurodegenerative lysosomal storage diseases. Int J Clin Pharmacol Ther 47:S118-S123.
12. Hemsley KM, King B, Hopwood JJ. 2007. Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice. Mol Genet Metab 90:313-328.
13. Hoving MA, van Raak EP, Spincemaille GH, van Kranen-Mastenbroek VH, van Kleef M, Gorter JW, Vles JS. 2009. Safety and one-year efficacy of intrathecal baclofen therapy in children with intractable spastic cerebral palsy. Eur J Paediatr Neurol 13:247-256.
14. Jones SA, Almassy Z, Beck M, Burt K, Clarke JT, Giugliani R, Hendriksz C, Kroepfl T, Lavery L, Lin SP, Malm G, Ramaswami U, Tincheva R, Wraith JE. 2009. Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis 32:534-543.
15. Jung SC, Park ES, Choi EN, Kim CH, Kim SJ, Jin DK. 2010. Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy. Mol Cells 30:13-18.
16. Kakkis E, McEntee M, Vogler C, Le S, Levy B, Belichenko P, Mobley W, Dickson P, Hanson S, Passage M. 2004. Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I. Mol Genet Metab 83:163-174.
17. Matheus MG, Castillo M, Smith JK, Armao D, Towle D, Muenzer J. 2004. Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology 46:666-672.
18. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. 1999. Prevalence of lysosomal storage disorders. JAMA 281:249-254.
19. Montano AM, Oikawa H, Tomatsu S, Nishioka T, Vogler C, Gutierrez MA, Oguma T, Tan Y, Grubb JH, Dung VC, Ohashi A, Miyamoto K, Orii T, Yoneda Y, Sly WS. 2008. Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice. Mol Genet Metab 94:178-189.
20. Morton RE, Gray N, Vloeberghs M. 2011. Controlled study of the effects of continuous intrathecal baclofen infusion in non-ambulant children with cerebral palsy. Dev Med Child Neurol 53:736-741.
21. Munoz-Rojas MV, Horovitz DD, Jardim LB, Raymundo M, Llerena JC Jr, de Magalhaes Tde S, Vieira TA, Costa TA, Kakkis E, Giugliani R. 2010. Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis. Mol Genet Metab 99:346-350.
22. Neufeld FN MJ, editor. 2001. The metabolic and molecular basis of inherited disease, 8th edition. New York: McGraw-Hill. pp. 3421-3452
23. Okuyama T, Tanaka A, Suzuki Y, Ida H, Tanaka T, Cox GF, Eto Y, Orii T. 2010. Japan Elaprase Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). Mol Genet Metab 99:18-25.
24. Pan C, Nelson MS, Reyes M, Koodie L, Brazil JJ, Stephenson EJ, Zhao RC, Peters C, Selleck SB, Stringer SE, Gupta P. 2005. Functional abnormalities of heparan sulfate in mucopolysaccharidosis-I are associated with defective biologic activity of FGF-2 on human multipotent progenitor cells. Blood 106:1956-1964.
25. Penn RD, Kroin JS, York MM, Cedarbaum JM. 1997. Intrathecal ciliary neurotrophic factor delivery for treatment of amyotrophic lateral sclerosis (phase I trial). Neurosurgery 40:94-99; discussion 99-100.
26. Polito VA, Cosma MP. 2009. IDS crossing of the blood-brain barrier corrects CNS defects in MPSII mice. Am J Hum Genet 85:296-301.
27. Polito VA, Abbondante S, Polishchuk RS, Nusco E, Salvia R, Cosma MP. 2010. Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy. Hum Mol Genet 19:4871-4885.
28. Pontow SE, Kery V, Stahl PD. 1992. Mannose receptor. Int Rev Cytol 137B:221-244.
29. Sohn YB, Choi EW, Kim SJ, Park SW, Kim SH, Cho SY, Jeong SI, Huh J, Kang IS, Lee HJ, Paik KH, Jin DK. 2012. Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases. Am J Med Genet Part A 158A:90-96.
30. Villani GR, Gargiulo N, Faraonio R, Castaldo S, Gonzalez YRE, Di Natale P. 2007. Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB. J Neurosci Res 85:612-622.
31. Vogler C, Levy B, Grubb JH, Galvin N, Tan Y, Kakkis E, Pavloff N, Sly WS. 2005. Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII. Proc Natl Acad Sci USA 102:14777-14782.
32. Young ID, Harper PS. 1982. Mild form of Hunter's syndrome: Clinical delineation based on 31 cases. Arch Dis Child 57:828-836.
33. Young ID, Harper PS. 1983. The natural history of the severe form of Hunter's syndrome: A study based on 52 cases. Dev Med Child Neurol 25:481-489.