JP2019500347A5 - - Google Patents

Info

Publication number

JP2019500347A5

JP2019500347A5 JP2018529240A JP2018529240A JP2019500347A5 JP 2019500347 A5 JP2019500347 A5 JP 2019500347A5 JP 2018529240 A JP2018529240 A JP 2018529240A JP 2018529240 A JP2018529240 A JP 2018529240A JP 2019500347 A5 JP2019500347 A5 JP 2019500347A5

Authority

JP

Japan

Prior art keywords

protein

mrna

prpf8

pharmaceutical composition

nucleobases

Prior art date

2016-12-14

Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)

Granted

Links

• Espacenet
• Global Dossier
• Discuss

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• 230000000717 retained effect Effects 0.000 claims description 97
• 108090000623 proteins and genes Proteins 0.000 claims description 88
• 238000000034 method Methods 0.000 claims description 84
• 102000004169 proteins and genes Human genes 0.000 claims description 74
• 230000000692 anti-sense effect Effects 0.000 claims description 67
• 101001105683 Homo sapiens Pre-mRNA-processing-splicing factor 8 Proteins 0.000 claims description 61
• 102100021231 Pre-mRNA-processing-splicing factor 8 Human genes 0.000 claims description 61
• 239000008194 pharmaceutical composition Substances 0.000 claims description 53
• 108020005067 RNA Splice Sites Proteins 0.000 claims description 45
• 108700028369 Alleles Proteins 0.000 claims description 28
• 230000002950 deficient Effects 0.000 claims description 19
• 108020004707 nucleic acids Proteins 0.000 claims description 18
• 102000039446 nucleic acids Human genes 0.000 claims description 18
• 150000007523 nucleic acids Chemical group 0.000 claims description 14
• 230000000295 complement effect Effects 0.000 claims description 11
• 230000000694 effects Effects 0.000 claims description 9
• 208000002909 retinitis pigmentosa 13 Diseases 0.000 claims description 8
• 238000010255 intramuscular injection Methods 0.000 claims description 6
• 238000010253 intravenous injection Methods 0.000 claims description 6
• 238000012986 modification Methods 0.000 claims description 6
• 230000004048 modification Effects 0.000 claims description 6
• 238000010254 subcutaneous injection Methods 0.000 claims description 6
• 108091093037 Peptide nucleic acid Proteins 0.000 claims description 5
• 230000007812 deficiency Effects 0.000 claims description 5
• ANCLJVISBRWUTR-UHFFFAOYSA-N diaminophosphinic acid Chemical compound NP(N)(O)=O ANCLJVISBRWUTR-UHFFFAOYSA-N 0.000 claims description 5
• 238000004519 manufacturing process Methods 0.000 claims description 5
• RYYWUUFWQRZTIU-UHFFFAOYSA-K thiophosphate Chemical compound [O-]P([O-])([O-])=S RYYWUUFWQRZTIU-UHFFFAOYSA-K 0.000 claims description 5
• 238000007913 intrathecal administration Methods 0.000 claims description 2
• 238000007914 intraventricular administration Methods 0.000 claims description 2
• 239000002243 precursor Substances 0.000 claims description 2
• 239000003814 drug Substances 0.000 claims 1
• 238000007912 intraperitoneal administration Methods 0.000 claims 1
• 102100040374 U4/U6 small nuclear ribonucleoprotein Prp3 Human genes 0.000 description 42
• 101000610640 Homo sapiens U4/U6 small nuclear ribonucleoprotein Prp3 Proteins 0.000 description 41
• 239000000203 mixture Substances 0.000 description 41
• 108091032973 (ribonucleotides)n+m Proteins 0.000 description 33
• 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 16
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• 125000003729 nucleotide group Chemical group 0.000 description 12
• 108091092195 Intron Proteins 0.000 description 11
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• 201000010667 retinitis pigmentosa 18 Diseases 0.000 description 6
• 208000035475 disorder Diseases 0.000 description 5
• 239000007927 intramuscular injection Substances 0.000 description 5
• 239000007928 intraperitoneal injection Substances 0.000 description 5
• 239000007929 subcutaneous injection Substances 0.000 description 5
• 108091027974 Mature messenger RNA Proteins 0.000 description 4
• -1 nucleic acid salts Chemical class 0.000 description 4
• 239000000546 pharmaceutical excipient Substances 0.000 description 4
• 238000011200 topical administration Methods 0.000 description 4
• 238000002054 transplantation Methods 0.000 description 4
• FWMNVWWHGCHHJJ-SKKKGAJSSA-N 4-amino-1-[(2r)-6-amino-2-[[(2r)-2-[[(2r)-2-[[(2r)-2-amino-3-phenylpropanoyl]amino]-3-phenylpropanoyl]amino]-4-methylpentanoyl]amino]hexanoyl]piperidine-4-carboxylic acid Chemical compound C([C@H](C(=O)N[C@H](CC(C)C)C(=O)N[C@H](CCCCN)C(=O)N1CCC(N)(CC1)C(O)=O)NC(=O)[C@H](N)CC=1C=CC=CC=1)C1=CC=CC=C1 FWMNVWWHGCHHJJ-SKKKGAJSSA-N 0.000 description 3
• 108091034117 Oligonucleotide Proteins 0.000 description 3
• 239000000074 antisense oligonucleotide Substances 0.000 description 3
• 238000012230 antisense oligonucleotides Methods 0.000 description 3
• 101100137819 Homo sapiens PRPF8 gene Proteins 0.000 description 2
• 101150034145 PRPF3 gene Proteins 0.000 description 2
• 230000001594 aberrant effect Effects 0.000 description 2
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• 230000001447 compensatory effect Effects 0.000 description 1
• 210000003754 fetus Anatomy 0.000 description 1
• 230000003834 intracellular effect Effects 0.000 description 1
• 229940065638 intron a Drugs 0.000 description 1
• 210000001161 mammalian embryo Anatomy 0.000 description 1
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