Title:
ANTISENSE OLIGONUCLEOTIDE AND COMPOSITION FOR PREVENTION OR TREATMENT OF GLYCOGEN STORAGE DISEASE TYPE IA
Document Type and Number:
WIPO Patent Application WO/2018/164275
Kind Code:
A1
Abstract:
The purpose of the present invention is to provide a novel antisense oligonucleotide and a composition for the prevention or treatment of glycogen storage disease type Ia. Provided is an antisense oligonucleotide that: hybridizes the pre-mRNA sequence in a region including at least one base from among the base at position 42911000, the base at position 42911004, and the base at position 42911005 of human chromosome 17 base sequence of GRCh38/hg38; and that is capable of suppressing the abnormal splicing of pre-mRNA of c.648G>T variant G6PC.
Inventors:
TAJIMA GO (JP)
OKADA SATOSHI (JP)
TSUMURA MIYUKI (JP)
OKADA SATOSHI (JP)
TSUMURA MIYUKI (JP)
Application Number:
PCT/JP2018/009326
Publication Date:
September 13, 2018
Filing Date:
March 09, 2018
Export Citation:
Assignee:
NAT CT CHILD HEALTH & DEV (JP)
UNIV HIROSHIMA (JP)
UNIV HIROSHIMA (JP)
International Classes:
C12N15/113; A61K31/7088; A61K48/00; A61P3/08
Domestic Patent References:
| WO2012168435A1 | 2012-12-13 |
Foreign References:
| JP2015501817A | 2015-01-19 | |||
| JPH08510130A | 1996-10-29 | |||
| JP2012530715A | 2012-12-06 |
Other References:
KAJIHARA, SUSUMU ET AL.: "Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan", AM. J. HUM. GENET., vol. 57, September 1995 (1995-09-01), pages 549 - 555, XP055555130
AKANUMA, JUN ET AL.: "Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells", AM. J. MED. GENET., vol. 91, 13 March 2000 (2000-03-13), pages 107 - 112, XP055555137, Retrieved from the Internet3.0.CO;2-Y>
CHOU JY ET AL., J INHERIT METAB DIS, vol. 38, 2014, pages 511 - 519
AKANUMA J ET AL., AM J MED GENET, vol. 91, 2000, pages 107 - 12
KAJIHARA S ET AL., AM J HUM GENET, vol. 57, 1995, pages 549 - 55
HAVENS MA ET AL., WIRES RNA, vol. 4, 2013, pages 247 - 66
"GenBank", Database accession no. GCA_000001405.25
M.A. HAVENSD.M. DUELLIM.L. HASTINGS: "Targeting RNA splicing for disease therapy", WILEY INTERDISCIP. REV. RNA, vol. 4, no. 3, 2013, pages 247 - 266, XP055093642, doi:10.1002/wrna.1158
J.Y. CHOUB.C. MANSFIELD: "Mutations in the Glucose-6-Phosphatase-a (G6PC) gene that cause type Ia glycogen storage disease", HUM. MUTAT., vol. 29, no. 7, 2008, pages 921 - 930, XP055512547, doi:10.1002/humu.20772
Y.F. LIP.A. MORCOS: "Design and synthesis of dendritic molecular transporter that achieves efficient in vivo delivery of morpholino antisense oligo", BIOCONJUGATE CHEM., vol. 19, no. 7, 2008, pages 1464 - 1470
S. KAJIHARAS. MATSUHASHIK. YAMAMOTOK. KIDOK. TSUJIA. TANAES. FUJIYAMAT. ITOHK. TANIGAWAM. UCHIDA: "Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type Ia in Japan", AM. J. HUM. GENET., vol. 57, no. 3, 1995, pages 549 - 555, XP055555130, doi:10.1016/0270-9139(95)95224-1
J. AKANUMAT. NISHIGAKIK. FUJIIY. MATSUBARAK. INUIK. TAKAHASHIS. KUREY. SUZUKIT. OHURAS. MIYABAYASHI: "Glycogen storage disease type 1 a: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells", AM. J. MED. GENET., vol. 91, no. 2, 2000, pages 107 - 112, XP055555137, doi:10.1002/(SICI)1096-8628(20000313)91:2<107::AID-AJMG5>3.0.CO;2-Y
J. KIDOK. NAKAMURAS. MATSUMOTOH. MITSUBUCHIT. OHURAY. SHIGEMATSUT. YORIFUJIM. KASAHARAR. HORIKAWAF. ENDO: "Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes", J. HUM. GENET., vol. 58, no. 5, 2013, pages 285 - 292, XP055506924, doi:10.1038/jhg.2013.17
S.C. CHIANGY.M. LEEM.H. CHANGT.R. WANGT.M. KOW.L. HWU: "Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type 1 a", J. HUM. GENET., vol. 45, no. 4, 2000, pages 197 - 199
W.J. QIUX.F. GUJ. YEL.S. HANY.F. ZHANGX.Q. LIU: "Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients", J. INHERIT. METAB. DIS., vol. 26, no. 8, 2003, pages 811 - 812
C.S. KIS.H. HANH.J. KIMS.G. LEEE.J. KIMJ.W. KIMY.H. CHOEJ.K. SEOY.J. CHANGJ.Y. PARK: "Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type la", CLIN. GENET., vol. 65, no. 6, 2004, pages 487 - 489
S.T. RASHIDS. CORBINEAUN. HANNANS.J. MARCINIAKE. MIRANDAG. ALEXANDERI. HUANG-DORANJ. GRIFFINL. AHRLUND-RICHTERJ. SKEPPER: "Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells", J. CLIN. INVEST., vol. 120, no. 9, 2010, pages 3127 - 3136, XP009154695, doi:10.1172/JCI43122
SHIMO TTACHIBANA KSAITO KYOSHIDA TTOMITA EWAKI RYAMAMOTO TDOI TINOUE TKAWAKAMI J: "Design and evaluation of locked nucleic acid-based splice-switching oligonucleotides in vitro", NUCLEIC ACIDS RES., vol. 42, no. 12, 2014, pages 8174 - 8187, XP055265698, doi:10.1093/nar/gku512
SOIFER HSKOCH TLAI JHANSEN BHOEG AOERUM HSTEIN CA: "Silencing of gene expression by gymnotic delivery of antisense oligonucleotides", METHODS MOL. BIOL., vol. 815, 2012, pages 333 - 346
HORI SYAMAMOTO TWAKI RWADA SWADA FNODA MOBIKA S: "Ca2+ enrichment in culture medium potentiates effect of oligonucleotides", NUCLEIC ACIDS RES., vol. 43, no. 19, 2015, pages el28
See also references of EP 3594346A4
AKANUMA, JUN ET AL.: "Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells", AM. J. MED. GENET., vol. 91, 13 March 2000 (2000-03-13), pages 107 - 112, XP055555137, Retrieved from the Internet
CHOU JY ET AL., J INHERIT METAB DIS, vol. 38, 2014, pages 511 - 519
AKANUMA J ET AL., AM J MED GENET, vol. 91, 2000, pages 107 - 12
KAJIHARA S ET AL., AM J HUM GENET, vol. 57, 1995, pages 549 - 55
HAVENS MA ET AL., WIRES RNA, vol. 4, 2013, pages 247 - 66
"GenBank", Database accession no. GCA_000001405.25
M.A. HAVENSD.M. DUELLIM.L. HASTINGS: "Targeting RNA splicing for disease therapy", WILEY INTERDISCIP. REV. RNA, vol. 4, no. 3, 2013, pages 247 - 266, XP055093642, doi:10.1002/wrna.1158
J.Y. CHOUB.C. MANSFIELD: "Mutations in the Glucose-6-Phosphatase-a (G6PC) gene that cause type Ia glycogen storage disease", HUM. MUTAT., vol. 29, no. 7, 2008, pages 921 - 930, XP055512547, doi:10.1002/humu.20772
Y.F. LIP.A. MORCOS: "Design and synthesis of dendritic molecular transporter that achieves efficient in vivo delivery of morpholino antisense oligo", BIOCONJUGATE CHEM., vol. 19, no. 7, 2008, pages 1464 - 1470
S. KAJIHARAS. MATSUHASHIK. YAMAMOTOK. KIDOK. TSUJIA. TANAES. FUJIYAMAT. ITOHK. TANIGAWAM. UCHIDA: "Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type Ia in Japan", AM. J. HUM. GENET., vol. 57, no. 3, 1995, pages 549 - 555, XP055555130, doi:10.1016/0270-9139(95)95224-1
J. AKANUMAT. NISHIGAKIK. FUJIIY. MATSUBARAK. INUIK. TAKAHASHIS. KUREY. SUZUKIT. OHURAS. MIYABAYASHI: "Glycogen storage disease type 1 a: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells", AM. J. MED. GENET., vol. 91, no. 2, 2000, pages 107 - 112, XP055555137, doi:10.1002/(SICI)1096-8628(20000313)91:2<107::AID-AJMG5>3.0.CO;2-Y
J. KIDOK. NAKAMURAS. MATSUMOTOH. MITSUBUCHIT. OHURAY. SHIGEMATSUT. YORIFUJIM. KASAHARAR. HORIKAWAF. ENDO: "Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes", J. HUM. GENET., vol. 58, no. 5, 2013, pages 285 - 292, XP055506924, doi:10.1038/jhg.2013.17
S.C. CHIANGY.M. LEEM.H. CHANGT.R. WANGT.M. KOW.L. HWU: "Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type 1 a", J. HUM. GENET., vol. 45, no. 4, 2000, pages 197 - 199
W.J. QIUX.F. GUJ. YEL.S. HANY.F. ZHANGX.Q. LIU: "Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients", J. INHERIT. METAB. DIS., vol. 26, no. 8, 2003, pages 811 - 812
C.S. KIS.H. HANH.J. KIMS.G. LEEE.J. KIMJ.W. KIMY.H. CHOEJ.K. SEOY.J. CHANGJ.Y. PARK: "Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type la", CLIN. GENET., vol. 65, no. 6, 2004, pages 487 - 489
S.T. RASHIDS. CORBINEAUN. HANNANS.J. MARCINIAKE. MIRANDAG. ALEXANDERI. HUANG-DORANJ. GRIFFINL. AHRLUND-RICHTERJ. SKEPPER: "Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells", J. CLIN. INVEST., vol. 120, no. 9, 2010, pages 3127 - 3136, XP009154695, doi:10.1172/JCI43122
SHIMO TTACHIBANA KSAITO KYOSHIDA TTOMITA EWAKI RYAMAMOTO TDOI TINOUE TKAWAKAMI J: "Design and evaluation of locked nucleic acid-based splice-switching oligonucleotides in vitro", NUCLEIC ACIDS RES., vol. 42, no. 12, 2014, pages 8174 - 8187, XP055265698, doi:10.1093/nar/gku512
SOIFER HSKOCH TLAI JHANSEN BHOEG AOERUM HSTEIN CA: "Silencing of gene expression by gymnotic delivery of antisense oligonucleotides", METHODS MOL. BIOL., vol. 815, 2012, pages 333 - 346
HORI SYAMAMOTO TWAKI RWADA SWADA FNODA MOBIKA S: "Ca2+ enrichment in culture medium potentiates effect of oligonucleotides", NUCLEIC ACIDS RES., vol. 43, no. 19, 2015, pages el28
See also references of EP 3594346A4
Attorney, Agent or Firm:
HARAKENZO WORLD PATENT & TRADEMARK (JP)
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