Clinical improvement of alpha-mannosidosis cat following a single cisterna magna infusion of AAV1

Molecular Therapy

Volumn 24, Issue 1, 2016, Pages 26-33

  Yoon, Sea Young ^a   Bagel, Jessica H ^b   O'Donnell, Patricia A ^b   Vite, Charles H ^b   Wolfe, John H ^a,b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA MANNOSIDASE; MESSENGER RNA; PARVOVIRUS VECTOR;

ADENO ASSOCIATED VIRUS 1; ALPHA MANNOSIDASE GENE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN TISSUE; CAUDATE NUCLEUS; CEREBROSPINAL FLUID; CHOROID PLEXUS; CISTERNA MAGNA; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; DRUG EFFICACY; ENZYME ACTIVITY; EPENDYMA; GENE THERAPY; GENETIC TRANSDUCTION; HIPPOCAMPUS; HISTOPATHOLOGY; LIFESPAN; LYSOSOME; LYSOSOME STORAGE DISEASE; MANNOSIDOSIS; NEUROLOGIC DISEASE; NONHUMAN; PONS; SERUM; SPINAL CORD; ADMINISTRATION AND DOSAGE; ALPHA-MANNOSIDOSIS; ANIMAL; BLOOD; BRAIN; CAT; CAT DISEASES; DEPENDOPARVOVIRUS; DISEASE MODEL; ENZYMOLOGY; GENE VECTOR; GENETICS; HUMAN; INJECTION; METABOLISM; ONSET AGE; PATHOLOGY; VETERINARY;

AGE OF ONSET; ALPHA-MANNOSIDASE; ALPHA-MANNOSIDOSIS; ANIMALS; BRAIN; CAT DISEASES; CATS; CISTERNA MAGNA; DEPENDOVIRUS; DISEASE MODELS, ANIMAL; GENETIC THERAPY; GENETIC VECTORS; HUMANS; INJECTIONS; LYSOSOMES;

EID: 84957850579     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2015.168     Document Type: Article

References (33)

1. Auclair, D, Finnie, J, White, J, Nielsen, T, Fuller, M, Kakkis, E., et al. (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
2. Chang, M, Cooper, JD, Sleat, DE, Cheng, SH, Dodge, JC, Passini, M.A., et al. (2008). Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis. Mol Ther 16: 649-656
3. Crawley, AC, Marshall, N, Beard, H, Hassiotis, S, Walsh, V, King, B., et al. (2011). Enzyme replacement reduces neuropathology in MPS IIIA dogs. Neurobiol Dis 43: 422-434
4. Dierenfeld, AD, McEntee, MF, Vogler, CA, Vite, CH, Chen, AH, Passage, M., et al. (2010). Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I. Sci Transl Med 2: 60ra89
5. Dodge, JC, Clarke, J, Treleaven, CM, Taksir, TV, Griffiths, DA, Yang, W., et al. (2009). Intracerebroventricular infusion of acid sphingomyelinase corrects CNS manifestations in a mouse model of Niemann-Pick A disease. Exp Neurol 215: 349-357
6. Hemsley, KM and 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 (suppl. 1): S118-S123
7. Hemsley, KM, King, B and 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
8. Kakkis, E, McEntee, M, Vogler, C, Le, S, Levy, B, Belichenko, P., et al. (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
9. Lee, WC, Tsoi, YK, Troendle, FJ, DeLucia, MW, Ahmed, Z, Dicky, CA., et al. (2007). Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy. FASEB J 21: 2520-2527
10. Vera, M, Le, S, Kan, SH, Garban, H, Naylor, D, Mlikotic, A., et al. (2013). Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients. Pediatr Res 74: 712-720
11. Fratantoni, JC, Hall, CW and Neufeld, EF (1968). Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science 162: 570-572
12. Liu, G, Martins, I, Wemmie, JA, Chiorini, JA and Davidson, BL (2005). Functional correction of CNS phenotypes in a lysosomal storage disease model using adenoassociated virus type 4 vectors. J Neurosci 25: 9321-9327
13. Vite, CH, McGowan, JC, Niogi, SN, Passini, MA, Drobatz, KJ, Haskins, ME., et al. (2005). Effective gene therapy for an inherited CNS disease in a large animal model. Ann Neurol 57: 355-364
14. Ciron, C, Desmaris, N, Colle, MA, Raoul, S, Joussemet, B, Vérot, L., et al. (2006). Gene therapy of the brain in the dog model of Hurlers syndrome. Ann Neurol 60: 204-213
15. McCurdy, VJ, Johnson, AK, Gray-Edwards, HL, Randle, AN, Brunson, BL, Morrison, NE., et al. (2014). Sustained normalization of neurological disease after intracranial gene therapy in a feline model. Sci Transl Med 6: 231ra48
16. Haurigot, V, Marco, S, Ribera, A, Garcia, M, Ruzo, A, Villacampa, P., et al. (2013). Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy. J Clin Invest 123: 3254-3271
17. Bevan, AK, Duque, S, Foust, KD, Morales, PR, Braun, L, Schmelzer, L., et al. (2011). Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders. Mol Ther 19: 1971-1980
18. Samaranch, L, Salegio, EA, San Sebastian, W, Kells, AP, Foust, KD, Bringas, J.R., et al. (2012). Adeno-associated virus serotype 9 transduction in the central nervous system of nonhuman primates. Hum Gene Ther 23: 382-389
19. Gray, SJ, Nagabhushan Kalburgi, S, McCown, TJ and Jude Samulski, R (2013). Global CNS gene delivery and evasion of anti-AAV-neutralizing antibodies by intrathecal AAV administration in non-human primates. Gene Ther 20: 450-459
20. Bucher, T, Dubreil, L, Colle, MA, Maquigneau, M, Deniaud, J, Ledevin, M., et al. (2014). Intracisternal delivery of AAV9 results in oligodendrocyte and motor neuron transduction in the whole central nervous system of cats. Gene Ther 21: 522-528
21. Meyer, K, Ferraiuolo, L, Schmelzer, L, Braun, L, McGovern, V, Likhite, S., et al. (2015). Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA: a dose-response study in mice and nonhuman primates. Mol Ther 23: 477-487
22. Hinderer, C, Bell, P, Gurda, BL, Wang, Q, Louboutin, JP, Zhu, Y., et al. (2014). Intrathecal gene therapy corrects CNS pathology in a feline model of mucopolysaccharidosis I. Mol Ther 22: 2018-2027
23. Wang, H, Yang, B, Qiu, L, Yang, C, Kramer, J, Su, Q., et al. (2014). Widespread spinal cord transduction by intrathecal injection of rAAV delivers efficacious RNAi therapy for amyotrophic lateral sclerosis. Hum Mol Genet 23: 668-681
24. Vite, CH, Passini, MA, Haskins, ME and Wolfe, JH (2003). Adeno-associated virus vector-mediated transduction in the cat brain. Gene Ther 10: 1874-1881
25. Vite, CH, McGowan, JC, Braund, KG, Drobatz, KJ, Glickson, JD, Wolfe, JH., et al. (2001). Histopathology, electrodiagnostic testing, and magnetic resonance imaging show significant peripheral and central nervous system myelin abnormalities in the cat model of alpha-mannosidosis. J Neuropathol Exp Neurol 60: 817-828
26. Berg, T, Tollersrud, OK, Walkley, SU, Siegel, D and Nilssen, O (1997). Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats. Biochem J 328 (Pt 3): 863-870
27. Sondhi, D, Johnson, L, Purpura, K, Monette, S, Souweidane, MM, Kaplitt, MG., et al. (2012). Long-term expression and safety of administration of AAVrh.10hCLN2 to the brain of rats and nonhuman primates for the treatment of late infantile neuronal ceroid lipofuscinosis. Hum Gene Ther Methods 23: 324-335
28. Simonato, M, Bennett, J, Boulis, NM, Castro, MG, Fink, DJ, Goins, WF., et al. (2013). Progress in gene therapy for neurological disorders. Nat Rev Neurol 9: 277-291
29. Bucher, T, Colle, MA, Wakeling, E, Dubreil, L, Fyfe, J, Briot-Nivard, D., et al. (2013). scAAV9 intracisternal delivery results in efficient gene transfer to the central nervous system of a feline model of motor neuron disease. Hum Gene Ther : 670-682
30. Wolfe, JH, Sands, MS, Barker, JE, Gwynn, B, Rowe, LB, Vogler, CA., et al. (1992). Reversal of pathology in murine mucopolysaccharidosis type VII by somatic cell gene transfer. Nature 360: 749-753
31. Karolewski, BA and Wolfe, JH (2006). Genetic correction of the fetal brain increases the lifespan of mice with the severe multisystemic disease mucopolysaccharidosis type VII. Mol Ther 14: 14-24
32. Sun, H and Wolfe, JH (2001). Recent progress in lysosomal alpha-mannosidase and its deficiency. Exp Mol Med 33: 1-7
33. Lock, M, Alvira, M, Vandenberghe, LH, Samanta, A, Toelen, J, Debyser, Z., et al. (2010). Rapid, simple, and versatile manufacturing of recombinant adeno-associated viral vectors at scale. Hum Gene Ther 21: 1259-1271