Gene therapy for lysosomal storage disorders: Recent advances and limitations

Journal of Inborn Errors of Metabolism and Screening

Volumn 5, Issue , 2017, Pages

  Gonzalez, Esteban Alberto ^a,b   Baldo, Guilherme ^a,b  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

Author keywords

Clinical trials; Gene therapy; Hurler; Lysosomal storage disorders; Vectors

Indexed keywords

CEREBROSIDE SULFATASE; LENTIVIRUS VECTOR;

ARTICLE; BLOOD BRAIN BARRIER; BRAIN DISEASE; CELL FUNCTION; CENTRAL NERVOUS SYSTEM DISEASE; ENZYME RELEASE; ENZYME REPLACEMENT; EYE DISEASE; GENE EXPRESSION; GENE THERAPY; GLYCOGEN STORAGE DISEASE; HEPATOSPLENOMEGALY; HUMAN; LYSOSOME STORAGE DISEASE; METACHROMATIC LEUKODYSTROPHY; MUCOPOLYSACCHARIDOSIS; NONHUMAN; PRIORITY JOURNAL;

EID: 85077934893     PISSN: 23264098     EISSN: 23264594     Source Type: Journal    
DOI: 10.1177/2326409816689786     Document Type: Article

References (44)

1. Alroy J, Lyons JA. Lysosomal storage diseases. J Inborn Errors Metab Screen. 2014;2:1-20. doi:10.1177/2326409813517663.
2. Pastores GM, Hughes DA. Non-neuronopathic lysosomal storage disorders: disease spectrum and treatments. Best Pract Res Clin Endocrinol Metab. 2015;29(2):173-182. doi:10.1016/j.beem.2014.08.005.
3. Bellettato CM, Scarpa M. Pathophysiology of neuropathic lysosomal storage disorders. J Inherit Metab Dis. 2010;33(4): 347-362. doi:10.1007/s10545-010-9075-9.
4. Sly WS, Fischer HD. The phosphomannosyl recognition system for intracellular and intercellular transport of lysosomal enzymes. JCell Biochem. 1982;18(1):67-85. doi:10.1002/jcb.1982.240180107.
5. Baldo G, Giugliani R, Matte U. Gene delivery strategies for the treatment of mucopolysaccharidoses. Expert Opin Drug Deliv. 2014;11(3):449-459. doi:10.1517/17425247.2014.880689.
6. Anson DS, Bielicki J, Hopwood JJ. Correction of mucopolysaccharidosis type I fibroblasts by retroviral-mediated transfer of the human alpha-L-iduronidase gene. Hum Gene Ther. 1992;3(4): 371-379. doi:10.1089/hum.1992.3.4-371.
7. Ellinwood NM, Vite CH, Haskins ME. Gene therapy for lysosomal storage diseases: the lessons and promise of animal models. J Gene Med. 2004;6(5):481-506. doi:10.1002/jgm.581.
8. Linari S, Castaman G. Hematological manifestations and complications of Gaucher disease. Expert Rev Hematol. 2016;9(1): 51-58. doi:10.1586/17474086.2016.1112732.
9. Metcalf JA, Linders B, Wu S, et al. Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression. Mol Genet Metab. 2010; 99(4):396-407. doi:10.1016/j.ymgme.2009.12.003.
10. Ponder KP, O’Malley TM, Wang P, et al. Neonatal gene therapy with a gamma retroviral vector in mucopolysaccharidosis VI cats. Mol Ther. 2012;20(5):898-907. doi:10.1038/mt.2012.9.
11. Trimarchi H, Canzonieri R, Schiel A, et al. Podocyturia is significantly elevated in untreated vs treated Fabry adult patients. J Nephrol. 2016;29(6):791-797. doi:10.1007/s40620-016-0271-z.
12. Choi JO, Lee M, Park HY, Jung SC. Characterization of Fabry mice treated with recombinant adeno-associated virus 2/8-mediated gene transfer.JBiomedSci. 2010;17(1): 26. doi:10.1186/1423-0127-17-26.
13. Bursi F, Osranek M, Seward JB, O’Leary PW. Mitral and aortic valve thickening associated with galactosialidosis: echocardiographic features of a lysosomal storage disease. Echocardiography. 2003;20(7):605-606.
14. Braunlin EA, Harmatz PR, Scarpa M, et al. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis. 2011;34(6):1183-1197. doi:10.1007/s10545-011-9359-8.
15. Bigg PW, Sleeper MM, O’Donnell PA, et al. The effect of neonatal gene therapy with a gamma retroviral vector on cardiac valve disease in mucopolysaccharidosis VII dogs after a decade. Mol Genet Metab. 2013;110(3):311-318. doi:10.1016/j.ymgme.2013.06.015.
16. Wolf DA, Banerjee S, Hackett PB, Whitley CB, McIvor RS, Low WC. Gene therapy for neurologic manifestations of mucopolysaccharidoses. Expert Opin Drug Deliv. 2015;12(2):283-296. doi:10.1517/17425247.2015.966682.
17. Baldo G, Wozniak DF, Ohlemiller KK, Zhang Y, Giugliani R, Ponder KP. Retroviral-vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits. J Inherit Metab Dis. 2013;36(3): 499-512. doi:10.1007/s10545-012-9530-x.
18. Ponder KP, Haskins ME. Gene therapy for mucopolysaccharidosis. Expert Opin Biol Ther. 2007;7(9):1333-1345. doi:10.1517/14712598.7.9.1333.
19. Russell DW. AAV vectors, insertional mutagenesis, and cancer. Mol Ther. 2007;15(10):1740-1743. doi:10.1038/sj.mt.6300299.
20. Donsante A, Vogler C, Muzyczka N, et al. Observed incidence of tumorigenesis in long-term rodent studies of rAAV vectors. Gene Ther. 2001;8(17):1343-1346. doi:10.1038/sj.gt.3301541.
21. Fu H, DiRosario J, Killedar S, Zaraspe K, McCarty DM. Correction of neurological disease of mucopolysaccharidosis IIIB in adult mice by rAAV9 trans-blood–brain barrier gene delivery. Mol Ther. 2011;19(6):1025-1033. doi:10.1038/mt.2011.34.
22. Gurda BL, A De Guilhem, De Lataillade A, Bell P, et al. Evaluation of AAV-mediated gene therapy for central nervous system disease in canine mucopolysaccharidosis VII. Mol Ther. 2016;24(2): 206-216. doi:10.1038/mt.2015.189.
23. Weismann CM, Ferreira J, Keeler AM, et al. Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan. Hum Mol Genet. 2015; 24(15):4353-4364. doi:10.1093/hmg/ddv168.
24. Gilkes JA, Bloom MD, Heldermon CD. Preferred transduction with AAV8 and AAV9 via thalamic administration in the MPS IIIB model: a comparison of four rAAV serotypes. Mol Genet Metab Reports. 2016;6:48-54. doi:10.1016/j.ymgmr.2015.11.006.
25. Gray-Edwards HL, Brunson BL, Holland M, et al. Mucopolysaccharidosis-like phenotype in feline Sandhoff disease and partial correction after AAV gene therapy. Mol Genet Metab. 2015;116(1-2):80-87. doi:10.1016/j.ymgme.2015.05.003.
26. Miyake N, Miyake K, Asakawa N, Yamamoto M, Shimada T. Long-term correction of biochemical and neurological abnormalities in MLD mice model by neonatal systemic injection of an AAV serotype 9 vector. Gene Ther. 2014;21(4):427-433. doi:10.1038/gt.2014.17.
27. Lin DS, Hsiao CD, Lee AYL, et al. Mitigation of cerebellar neuropathy in globoid cell leukodystrophy mice by AAV-mediated gene therapy. Gene. 2015;571(1):81-90. doi:10.1016/j.gene.2015.06.049.
28. Hinderer C, Bell P, Gurda BL, et al. Intrathecal gene therapy corrects CNS pathology in a feline model of mucopolysaccharidosis I. Mol Ther. 2014;22(12):2018-2027. doi:10.1038/mt.2014.135.
29. Tardieu M, Zérah M, Husson B, et al. Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial. Hum Gene Ther. 2014;25(6):506-516. doi:10.1089/hum.2013.238.
30. Sergijenko A, Langford-Smith A, Liao AY, et al. Myeloid/microglial driven autologous hematopoietic stem cell gene therapy corrects a neuronopathic lysosomal disease. Mol Ther. 2013;21(10): 1938-1949. doi:10.1038/mt.2013.141.
31. Heldermon CD, Qin EY, Ohlemiller KK, et al. Disease correction by combined neonatal intracranial AAV and systemic lentiviral gene therapy in Sanfilippo syndrome type B mice. Gene Ther. 2013;20(9):913-921. doi:10.1038/gt.2013.14.
32. Harrison F, Yeagy BA, Rocca CJ, Kohn DB, Salomon DR, Cherqui S. Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis. Mol Ther. 2013;21(2): 433-444. doi:10.1038/mt.2012.214.
33. Kyosen SO, Iizuka S, Kobayashi H, et al. Neonatal gene transfer using lentiviral vector for murine Pompe disease: long-term expression and glycogen reduction. Gene Ther. 2010;17(4): 521-530. doi:10.1038/gt.2009.160.
34. Lattanzi A, Salvagno C, Maderna C, et al. Therapeutic benefit of lentiviral-mediated neonatal intracerebral gene therapy in a mouse model of globoid cell leukodystrophy. Hum Mol Genet. 2014;23(12):3250-3268. doi:10.1093/hmg/ddu034.
35. Wakabayashi T, Shimada Y, Akiyama K, et al. Hematopoietic stem cell gene therapy corrects neuropathic phenotype in murine model of mucopolysaccharidosis type II. Hum Gene Ther. 2015; 26(6):357-366. doi:10.1089/hum.2014.158.
36. Visigalli I, Delai S, Politi LS, et al. Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects mucopolysaccharidosis type I phenotype in the mouse model. Blood. 2010;116(24):5130-5139. doi:10.1182/blood-2010-04-278234.
37. Biffi A, Montini E, Lorioli L, et al. Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science. 2013;341(6148):1233158-1233158. doi:10.1126/science.1233158.
38. Sessa M, Lorioli L, Fumagalli F, et al. Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/ 2 trial. Lancet. 2016;388(10043):476-487. doi:10.1016/S0140-6736(16)30374-9.
39. Whiting REH, Jensen CA, Pearce JW, Gillespie LE, Bristow DE, Katz ML. Intracerebroventricular gene therapy that delays neurological disease progression is associated with selective preservation of retinal ganglion cells in a canine model of CLN2 disease. Exp Eye Res. 2016;146:276-282. doi:10.1016/j.exer.2016.03.023.
40. Chung S, Ma X, Liu Y, Lee D, Tittiger M, Ponder KP. Effect of neonatal administration of a retroviral vector expressing alpha-Liduronidase upon lysosomal storage in brain and other organs in mucopolysaccharidosis I mice. Mol Genet Metab. 2007;90(2): 181-192. doi:10.1016/j.ymgme.2006.08.001.
41. Hennig AK, Ogilvie JM, Ohlemiller KK, Timmers AM, Hauswirth WW, Sands MS. AAV-mediated intravitreal gene therapy reduces lysosomal storage in the retinal pigmented epithelium and improves retinal function in adult MPS VII mice. Mol Ther. 2004; 10(1):106-116. doi:10.1016/j.ymthe.2004.03.018.
42. Montaño AM, Oikawa H, Tomatsu S, et al. Acidic amino acid tag enhances response to enzyme replacement inmucopolysaccharidosis type VIImice.MolGenet Metab. 2008;94(2):178-189. doi:10.1016/j.ymgme.2008.01.007.
43. Macsai CE, Derrick-Roberts ALK, Ding X, et al. Skeletal response to lentiviral mediated gene therapy in a mouse model of MPS VII. Mol Genet Metab. 2012;106(2):202-213. doi:10.1016/j.ymgme.2012.03.022.
44. Smith LJ, Martin JT, O’Donnell P, et al. Effect of neonatal gene therapy on lumbar spine disease in mucopolysaccharidosis VII dogs. Mol Genet Metab. 2012;107(1–2):145-152. doi:10.1016/j.ymgme.2012.03.013.