CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges.
enzyme replacement therapy
exosomes
extracellular vesicles
gene therapy
liposomes
lysosomes
small molecules
therapy
Journal
Frontiers in molecular biosciences
ISSN: 2296-889X
Titre abrégé: Front Mol Biosci
Pays: Switzerland
ID NLM: 101653173
Informations de publication
Date de publication:
2020
2020
Historique:
received:
07
05
2020
accepted:
15
09
2020
entrez:
11
12
2020
pubmed:
12
12
2020
medline:
12
12
2020
Statut:
epublish
Résumé
During the past decades, several therapeutic approaches have been developed and made rapidly available for many patients afflicted with lysosomal storage disorders (LSDs), inborn organelle disorders with broad clinical manifestations secondary to the progressive accumulation of undegraded macromolecules within lysosomes. These conditions are individually rare, but, collectively, their incidence ranges from 1 in 2,315 to 7,700 live-births. Most LSDs are manifested by neurological symptoms or signs, including developmental delay, seizures, acroparesthesia, motor weakness, and extrapyramidal signs. The chronic and later-onset clinical forms are at one end of the continuum spectrum and are characterized by a subtle and slow progression of neurological symptoms. Due to its inherent physiological properties, unfortunately, the blood-brain barrier (BBB) constitutes a significant obstacle for current and upcoming therapies to achieve the central nervous system (CNS) and treat neurological problems so prevalent in these conditions. To circumvent this limitation, several strategies have been developed to make the therapeutic agent achieve the CNS. This narrative will provide an overview of current therapeutic strategies under development to permeate the BBB, and address and unmet need for treatment of the progressive neurological manifestations, which are so prevalent in these inherited lysosomal disorders.
Identifiants
pubmed: 33304924
doi: 10.3389/fmolb.2020.559804
pmc: PMC7693645
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
559804Subventions
Organisme : NINDS NIH HHS
ID : R21 NS113649
Pays : United States
Informations de copyright
Copyright © 2020 Edelmann and Maegawa.
Références
PLoS One. 2016 May 26;11(5):e0156452
pubmed: 27228099
Sci Adv. 2019 Nov 20;5(11):eaax7462
pubmed: 31799395
Clin Ther. 2007 Aug;29(8):1645-54
pubmed: 17919546
Blood. 2015 Mar 26;125(13):2164-72
pubmed: 25624320
FEBS J. 2014 Oct;281(19):4450-66
pubmed: 25131710
JAMA. 2015 Feb 17;313(7):695-706
pubmed: 25688781
Mol Genet Metab. 2016 Feb;117(2):199-209
pubmed: 26766614
Nature. 1978 Oct 26;275(5682):695-6
pubmed: 100708
Lancet Child Adolesc Health. 2018 Jan;2(1):56-68
pubmed: 30169196
Mol Biol Cell. 2013 Feb;24(3):261-73
pubmed: 23264468
Ann Clin Transl Neurol. 2016 Feb 02;3(3):200-15
pubmed: 27042680
JAMA Neurol. 2016 Sep 1;73(9):1133-40
pubmed: 27400410
Hum Gene Ther. 2016 Jul;27(7):478-96
pubmed: 27267688
Neurobiol Dis. 2010 Jan;37(1):13-25
pubmed: 19664713
Pediatrics. 2009 Dec;124(6):e1228-39
pubmed: 19901005
BMC Cancer. 2012 Jan 17;12:22
pubmed: 22251860
Mol Ther. 2016 Jun;24(6):1019-1029
pubmed: 26948439
Mol Ther Methods Clin Dev. 2017 Dec 01;8:87-104
pubmed: 29326962
Nat Rev Immunol. 2002 Aug;2(8):569-79
pubmed: 12154376
Neurobiol Dis. 2011 Jun;42(3):360-7
pubmed: 21303699
Nanomedicine. 2012 Jul;8(5):712-20
pubmed: 22024193
Ann Neurol. 2012 Jan;71(1):110-20
pubmed: 22275257
Genet Med. 2009 Jun;11(6):425-33
pubmed: 19346952
Drugs Future. 2010 Aug 1;35(8):613-620
pubmed: 22563139
Nat Biotechnol. 2009 Jan;27(1):59-65
pubmed: 19098898
Life Sci. 2001 Nov 30;70(2):131-42
pubmed: 11787939
Drug Discov Today. 2007 Jan;12(1-2):54-61
pubmed: 17198973
Ann Neurol. 2008 Nov;64(5):514-22
pubmed: 19067373
Cell Immunol. 2019 Aug;342:103728
pubmed: 29576315
J Biol Chem. 2003 Aug 22;278(34):31918-23
pubmed: 12813057
Mol Genet Metab. 2019 Feb;126(2):131-138
pubmed: 30635159
Curr Pharm Biotechnol. 2013;14(2):194-8
pubmed: 23167761
J Biol Chem. 1994 Oct 28;269(43):27108-14
pubmed: 7929454
Cell Stem Cell. 2009 Sep 4;5(3):310-9
pubmed: 19733542
Sci Rep. 2017 Nov 8;7(1):15089
pubmed: 29118420
Science. 1968 Nov 1;162(3853):570-2
pubmed: 4236721
Gene Ther. 2017 May;24(5):325-332
pubmed: 28425480
Pediatrics. 2009 Jan;123(1):19-29
pubmed: 19117856
ACS Chem Biol. 2006 May 23;1(4):235-51
pubmed: 17163678
Mol Genet Metab. 2012 Jan;105(1):116-25
pubmed: 22056610
Curr Pharm Des. 2012;18(18):2622-43
pubmed: 22512447
Dev Neurosci. 1983-1984;6(1):58-71
pubmed: 6421563
Curr Gene Ther. 2012 Aug;12(4):262-74
pubmed: 22856601
Neurol Clin. 2013 Nov;31(4):1051-71
pubmed: 24176423
Nat Biotechnol. 2019 Dec;37(12):1395-1400
pubmed: 31796920
Hum Gene Ther. 2014 Jun;25(6):506-16
pubmed: 24524415
Drugs. 2017 Jul;77(11):1247-1249
pubmed: 28589525
EMBO Mol Med. 2018 Jul;10(7):
pubmed: 29884617
CNS Drugs. 2019 Jul;33(7):677-683
pubmed: 31187454
Exp Hematol. 2004 Jun;32(6):547-55
pubmed: 15183895
Blood. 2019 Oct 10;134(15):1203-1213
pubmed: 31467062
Orphanet J Rare Dis. 2011 Nov 07;6:72
pubmed: 22059643
J Med Genet. 2017 Apr;54(4):288-296
pubmed: 27834756
J Biol Chem. 2009 Aug 28;284(35):23502-16
pubmed: 19578116
J Biol Chem. 1989 Jul 5;264(19):10927-30
pubmed: 2525553
Carbohydr Res. 2017 Apr 10;442:31-40
pubmed: 28288345
Hum Mutat. 2008 Aug;29(8):1037-47
pubmed: 18454449
Mol Genet Metab Rep. 2019 May 17;20:100476
pubmed: 31467847
Bone Marrow Transplant. 2008 Jan;41(2):99-108
pubmed: 18176609
Adv Healthc Mater. 2019 Jun;8(11):e1801271
pubmed: 30997751
Cell. 2008 Sep 5;134(5):769-81
pubmed: 18775310
Arch Dis Child. 2019 Aug;104(8):755-760
pubmed: 30910816
J Inherit Metab Dis. 2009 Apr;32(2):181-9
pubmed: 19130290
Biotechnol Bioeng. 2008 Feb 1;99(2):475-84
pubmed: 17680664
Nat Biotechnol. 2011 Apr;29(4):341-5
pubmed: 21423189
Nat Rev Neurol. 2018 Mar;14(3):133-150
pubmed: 29377008
J Child Neurol. 2019 May;34(6):339-358
pubmed: 30757954
J Cell Biol. 2007 Sep 24;178(7):1145-60
pubmed: 17893241
Curr Pharm Des. 2008;14(16):1566-80
pubmed: 18673198
Semin Hematol. 2010 Jan;47(1):59-69
pubmed: 20109613
PLoS One. 2013 Apr 19;8(4):e61418
pubmed: 23620750
Biochim Biophys Acta. 1977 Feb 4;464(3):530-46
pubmed: 836826
J Cell Sci. 2019 Dec 2;132(23):
pubmed: 31792042
J Biol Chem. 1994 Mar 18;269(11):8362-5
pubmed: 8132559
Mol Ther Methods Clin Dev. 2019 May 24;14:56-63
pubmed: 31309128
Biomaterials. 2012 Dec;33(35):9127-34
pubmed: 22981778
Adv Drug Deliv Rev. 2012 May 15;64(7):701-5
pubmed: 22210134
EMBO Mol Med. 2016 May 02;8(5):489-510
pubmed: 27025653
Drug Des Devel Ther. 2013 Aug 08;7:729-45
pubmed: 23966770
N Engl J Med. 2016 Aug 11;375(6):545-55
pubmed: 27509102
Nanomedicine. 2012 Jul;8(5):731-9
pubmed: 21906578
Lancet. 2017 Oct 14;390(10104):1758-1768
pubmed: 28803710
Hum Gene Ther. 2019 Oct;30(10):1211-1221
pubmed: 31482754
Lancet Neurol. 2007 Sep;6(9):765-72
pubmed: 17689147
N Engl J Med. 2018 May 17;378(20):1898-1907
pubmed: 29688815
Orphanet J Rare Dis. 2011 Aug 10;6:55
pubmed: 21831279
J Cell Mol Med. 2016 Feb;20(2):381-5
pubmed: 26648046
J Cell Biol. 2013 Feb 18;200(4):373-83
pubmed: 23420871
Science. 2008 Feb 15;319(5865):916-9
pubmed: 18276881
Cell. 1994 Jan 28;76(2):301-14
pubmed: 7507411
Bioconjug Chem. 2013 Jan 16;24(1):97-104
pubmed: 23249376
Cell Death Differ. 2011 Oct;18(10):1547-60
pubmed: 21331078
NeuroRx. 2005 Jan;2(1):1-2
pubmed: 15717052
Autophagy. 2016;12(1):1-222
pubmed: 26799652
Nat Commun. 2017 Feb 06;8:14338
pubmed: 28165011
Biochem Biophys Res Commun. 1985 Mar 15;127(2):663-7
pubmed: 3919736
Science. 2013 Aug 23;341(6148):1233158
pubmed: 23845948
J Drug Target. 2011 Sep;19(8):606-14
pubmed: 21275828
Cold Spring Harb Perspect Biol. 2015 Jan 05;7(1):a020412
pubmed: 25561720
Am J Med Genet A. 2008 Oct 1;146A(19):2538-44
pubmed: 18792977
Mol Genet Metab. 2009 Sep-Oct;98(1-2):215-24
pubmed: 19595619
J Clin Invest. 2004 Apr;113(8):1118-29
pubmed: 15085191
Nat Rev Mol Cell Biol. 2018 Apr;19(4):213-228
pubmed: 29339798
Neurology. 2017 Sep 26;89(13):1318-1319
pubmed: 28855407
Blood Cells Mol Dis. 2018 Feb;68:192-193
pubmed: 28007403
JCI Insight. 2019 Mar 7;4(5):
pubmed: 30843882
Mol Ther. 2017 May 3;25(5):1155-1162
pubmed: 28389320
Mol Genet Metab. 2011 Jan;102(1):6-12
pubmed: 20926324
Blood. 2013 Oct 24;122(17):3074-81
pubmed: 23996087
Front Neurol. 2019 Nov 07;10:1152
pubmed: 31787919
J Pharmacol Exp Ther. 2017 Feb;360(2):313-323
pubmed: 27856936
EMBO Mol Med. 2013 May;5(5):675-90
pubmed: 23568409
J Control Release. 2007 Oct 8;122(3):345-8
pubmed: 17512078
J Control Release. 2011 Feb 10;149(3):323-31
pubmed: 21047542
Mol Ther. 2018 Jun 6;26(6):1552-1567
pubmed: 29628303
Mol Genet Metab. 2011 Jun;103(2):107-12
pubmed: 21397538
J Control Release. 2020 Jan 10;317:273-281
pubmed: 31730913
Mol Ther. 2015 Aug;23(8):1298-1307
pubmed: 26022732
N Engl J Med. 2005 May 19;352(20):2069-81
pubmed: 15901860
Biol Blood Marrow Transplant. 2018 Jul;24(7):1311-1312
pubmed: 29753835
Front Mol Biosci. 2020 Jul 21;7:167
pubmed: 32850960
Haematologica. 2009 Dec;94(12):1771-5
pubmed: 19608672
J Pediatr. 2009 May;154(5):733-7
pubmed: 19167723
Cell. 2007 Nov 16;131(4):809-21
pubmed: 18022373
PLoS Biol. 2008 Feb;6(2):e26
pubmed: 18254660
Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):2999-3004
pubmed: 23382178
Blood. 2013 Jul 25;122(4):491-8
pubmed: 23673863
J Inherit Metab Dis. 2014 Jul;37(4):587-98
pubmed: 24820227
Radiology. 2005 Jul;236(1):221-30
pubmed: 15987975
Br J Haematol. 2014 Nov;167(3):293-303
pubmed: 25074667
J Biol Chem. 2007 Mar 23;282(12):9150-61
pubmed: 17237499
Biomacromolecules. 2011 Jul 11;12(7):2524-33
pubmed: 21604696
Cancer Res. 2009 Jul 1;69(13):5601-9
pubmed: 19549916
PLoS One. 2009 Sep 11;4(9):e6951
pubmed: 19750228
Mol Genet Metab. 2009 Nov;98(3):235-42
pubmed: 19632871
J Neurosci Res. 2018 Jan;96(1):45-52
pubmed: 28718905
Mol Ther. 2006 Jan;13(1):135-41
pubmed: 16153895
Lancet. 2015 Jun 13;385(9985):2355-62
pubmed: 25819691
Oncotarget. 2015 May 10;6(13):11327-41
pubmed: 25857301
J Biol Chem. 1997 Aug 1;272(31):19365-72
pubmed: 9235935
Lancet Neurol. 2017 Nov;16(11):877-897
pubmed: 28931491
EBioMedicine. 2020 May;55:102735
pubmed: 32279952
J Biol Chem. 2010 May 21;285(21):16360-8
pubmed: 20335166
J Nanobiotechnology. 2012 May 20;10:20
pubmed: 22607686
J Inherit Metab Dis. 2018 Nov;41(6):1215-1223
pubmed: 29846843
Nanomedicine (Lond). 2011 Apr;6(3):423-36
pubmed: 21542682
J Inherit Metab Dis. 2013 Mar;36(2):263-70
pubmed: 22718273
J Neurosci. 2006 Mar 22;26(12):3109-19
pubmed: 16554462
Trends Mol Med. 2012 Nov;18(11):679-88
pubmed: 23083810
Orphanet J Rare Dis. 2018 Feb 1;13(1):30
pubmed: 29391017
J Inherit Metab Dis. 2004;27(5):649-58
pubmed: 15669681
N Engl J Med. 2001 Jun 14;344(24):1870-1
pubmed: 11407361
Adv Healthc Mater. 2016 Apr 6;5(7):829-40
pubmed: 26890358
Nat Rev Mol Cell Biol. 2003 Mar;4(3):202-12
pubmed: 12612639
Mol Genet Metab Rep. 2018 Mar 26;15:98-99
pubmed: 30023296
Adv Exp Med Biol. 2020;1230:27-42
pubmed: 32285363
J Pediatr. 2017 Mar;182:363-370
pubmed: 27939258
Genet Med. 2009 Jun;11(6):450-4
pubmed: 19346954
J Neurosci. 2016 Jul 13;36(28):7441-52
pubmed: 27413154
Biol Blood Marrow Transplant. 2018 Nov;24(11):2233-2238
pubmed: 29933067
Int J Mol Sci. 2017 Dec 01;18(12):
pubmed: 29194406
J Neurochem. 2008 Aug;106(4):1534-44
pubmed: 18489712
Mol Genet Metab. 2018 Feb;123(2):105-111
pubmed: 29198892
Nanomedicine (Lond). 2013 Jul;8(7):1055-65
pubmed: 23199221
Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):14164-9
pubmed: 8943078
Cold Spring Harb Perspect Biol. 2020 May 1;12(5):
pubmed: 31088828
Hum Mol Genet. 2007 Nov 15;16(22):2693-702
pubmed: 17725987
Autophagy. 2016;12(3):472-83
pubmed: 26761717
EMBO Mol Med. 2019 Mar;11(3):
pubmed: 30670463
J Inherit Metab Dis. 2017 Mar;40(2):177-193
pubmed: 27966099
J Neurosci. 2004 Nov 24;24(47):10642-51
pubmed: 15564580
EBioMedicine. 2016 Nov;13:212-224
pubmed: 27789271
Genet Med. 2016 Jan;18(1):73-81
pubmed: 25834948
Bioconjug Chem. 2017 Feb 15;28(2):471-480
pubmed: 27977155
Appl Microbiol Biotechnol. 2016 Dec;100(24):10395-10402
pubmed: 27353764
J Lipid Res. 2017 Apr;58(4):695-708
pubmed: 28193631
J Biomed Nanotechnol. 2014 Feb;10(2):345-54
pubmed: 24738342
Nanoscale Res Lett. 2013 Feb 22;8(1):102
pubmed: 23432972
Mol Genet Metab. 2007 Jul;91(3):259-67
pubmed: 17509920
Hum Gene Ther. 2019 Jul;30(7):855-864
pubmed: 30803275
J Inherit Metab Dis. 2018 Sep;41(5):829-838
pubmed: 29305734
Biotechnol J. 2014 Dec;9(12):1582-93
pubmed: 25143246
J Pediatr. 1996 Jul;129(1):145-8
pubmed: 8757575
Biochem J. 1974 May;140(2):323-30
pubmed: 4375965
Biol Blood Marrow Transplant. 2018 Jul;24(7):1463-1470
pubmed: 29477778
Neuropediatrics. 1984 Sep;15 Suppl:85-92
pubmed: 6242704
Curr Opin Cell Biol. 2011 Apr;23(2):126-34
pubmed: 21131189
Am J Med Genet A. 2017 Mar;173(3):780-783
pubmed: 28211988
Nat Rev Drug Discov. 2018 Feb;17(2):133-150
pubmed: 29147032
Trans Am Clin Climatol Assoc. 2013;124:46-60
pubmed: 23874009
Int J Mol Sci. 2020 Feb 01;21(3):
pubmed: 32024082
Hum Mol Genet. 2010 Jun 1;19(11):2208-27
pubmed: 20203170
Hum Mol Genet. 2013 May 15;22(10):1994-2009
pubmed: 23393155
Sci Rep. 2019 Nov 21;9(1):17274
pubmed: 31754156
Br J Haematol. 2010 Feb;148(3):356-72
pubmed: 19919654
Genet Med. 2019 Nov;21(11):2552-2560
pubmed: 31019279
Epilepsia. 2007 Jul;48(7):1406-8
pubmed: 17433057
ACS Chem Neurosci. 2012 Jan 18;3(1):50-68
pubmed: 22267984
Front Pediatr. 2019 Oct 25;7:433
pubmed: 31709204
Acta Paediatr. 2008 Apr;97(457):88-93
pubmed: 18339196
Front Physiol. 2012 Apr 30;3:119
pubmed: 22557979
Bone Marrow Transplant. 2013 Mar;48(3):369-75
pubmed: 22941383
Hematol Oncol Clin North Am. 2017 Oct;31(5):869-881
pubmed: 28895853
J Neurosci Res. 2016 Nov;94(11):1273-83
pubmed: 27638609
Lancet. 2000 Apr 29;355(9214):1481-5
pubmed: 10801168
Methods Mol Biol. 2017;1594:151-163
pubmed: 28456981
Mol Genet Metab. 2009 Aug;97(4):284-91
pubmed: 19447653
Drug Discov Today. 2001 Jan 1;6(1):1-2
pubmed: 11165157
Dev Neurosci. 1991;13(4-5):197-204
pubmed: 1817024
Mol Ther Nucleic Acids. 2017 Jun 16;7:278-287
pubmed: 28624203
Nat Rev Mol Cell Biol. 2013 Apr;14(4):237-48
pubmed: 23463216
Curr Opin Mol Ther. 2008 Oct;10(5):471-8
pubmed: 18830923
Blood. 2016 Jun 16;127(24):3098-101
pubmed: 27118454
Lancet. 2016 Jul 30;388(10043):476-87
pubmed: 27289174
Nat Rev Dis Primers. 2018 Oct 1;4(1):27
pubmed: 30275469
Proc Natl Acad Sci U S A. 2006 Jul 25;103(30):11172-7
pubmed: 16837572
J Neurosci Res. 1997 Feb 1;47(3):341-7
pubmed: 9039656
Mol Genet Metab. 2011 Mar;102(3):356-63
pubmed: 21185210
FEBS J. 2007 Oct;274(19):4951-61
pubmed: 17894780
Mol Ther. 2010 Jul;18(7):1268-74
pubmed: 20442709
Curr Opin Pharmacol. 2006 Oct;6(5):494-500
pubmed: 16839816
J Pharmacol Exp Ther. 2008 May;325(2):400-8
pubmed: 18287213