CL2022003145A1 - Composiciones y métodos para tratar trastornos asociados a mutaciones de pérdida de función en syngap1 - Google Patents

Composiciones y métodos para tratar trastornos asociados a mutaciones de pérdida de función en syngap1

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Publication number
CL2022003145A1
CL2022003145A1 CL2022003145A CL2022003145A CL2022003145A1 CL 2022003145 A1 CL2022003145 A1 CL 2022003145A1 CL 2022003145 A CL2022003145 A CL 2022003145A CL 2022003145 A CL2022003145 A CL 2022003145A CL 2022003145 A1 CL2022003145 A1 CL 2022003145A1
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CL
Chile
Prior art keywords
syngap1
loss
function mutations
methods
compositions
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CL2022003145A
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English (en)
Inventor
Petrou Steven
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The Florey Inst Of Neuroscience And Mental Health
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Priority claimed from AU2020901507A external-priority patent/AU2020901507A0/en
Application filed by The Florey Inst Of Neuroscience And Mental Health filed Critical The Florey Inst Of Neuroscience And Mental Health
Publication of CL2022003145A1 publication Critical patent/CL2022003145A1/es

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    • C12Y306/05002—Small monomeric GTPase (3.6.5.2)

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Abstract

La presente divulgación se refiere en general a composiciones y métodos adecuados para tratar un trastorno asociado a mutaciones de pérdida de función en SYNGAP1. Más específicamente, la divulgación se refiere a métodos para tratar un trastorno asociado a mutaciones heterocigóticas de pérdida de función de SYNGAP1 y a oligonucleótidos antisentido específicos para SYNGAP1, y a su uso para tratar un trastorno asociado a mutaciones heterocigóticas de pérdida de función de SYNGAP1.
CL2022003145A 2020-05-11 2022-11-11 Composiciones y métodos para tratar trastornos asociados a mutaciones de pérdida de función en syngap1 CL2022003145A1 (es)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
AU2020901507A AU2020901507A0 (en) 2020-05-11 Compositions and methods for treating disorders associated with loss-of-function mutations in SYNGAP1

Publications (1)

Publication Number Publication Date
CL2022003145A1 true CL2022003145A1 (es) 2023-06-30

Family

ID=78525840

Family Applications (1)

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CL2022003145A CL2022003145A1 (es) 2020-05-11 2022-11-11 Composiciones y métodos para tratar trastornos asociados a mutaciones de pérdida de función en syngap1

Country Status (15)

Country Link
US (1) US20230174984A1 (es)
EP (1) EP4150094A1 (es)
JP (1) JP2023526060A (es)
KR (1) KR20230009965A (es)
CN (1) CN115916977A (es)
AU (1) AU2021272832A1 (es)
BR (1) BR112022022893A2 (es)
CA (1) CA3178334A1 (es)
CL (1) CL2022003145A1 (es)
CO (1) CO2022017705A2 (es)
EC (1) ECSP22093649A (es)
IL (1) IL298070A (es)
MX (1) MX2022014155A (es)
PE (1) PE20230739A1 (es)
WO (1) WO2021226663A1 (es)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA3236950A1 (en) * 2021-11-01 2023-05-04 Ionis Pharmaceuticals, Inc. Compounds and methods for reducing psd3 expression
WO2023163801A1 (en) * 2022-02-24 2023-08-31 Q-State Biosciences, Inc. Therapeutics for syngap haploinsufficiency
WO2023196847A2 (en) * 2022-04-05 2023-10-12 The Johns Hopkins University Agents for modulating syngap1 splicing
WO2024119145A1 (en) * 2022-12-01 2024-06-06 Camp4 Therapeutics Corporation Modulation of syngap1 gene transcription using antisense oligonucleotides targeting regulatory rnas

Family Cites Families (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6083695A (en) * 1996-04-15 2000-07-04 The University Of Houston Optimized primer library for gene sequencing and method of using same
CN101821391B (zh) * 2007-10-04 2016-04-27 桑塔里斯制药公司 微小聚体
WO2010051632A1 (en) * 2008-11-07 2010-05-14 Centre Hospitalier Universitaire Sainte-Justine Syngap1 dysfunctions and uses thereof in diagnostic and therapeutic applications for mental retardation
WO2016201272A1 (en) * 2015-06-12 2016-12-15 King Abdulaziz City For Science And Technology Method of diagnosing patients with conditions caused by mendelian mutations
EP3390636B1 (en) * 2015-12-14 2021-05-19 Cold Spring Harbor Laboratory Antisense oligomers for treatment of dravet syndrome
US11096956B2 (en) * 2015-12-14 2021-08-24 Stoke Therapeutics, Inc. Antisense oligomers and uses thereof
AU2020334067A1 (en) * 2019-08-19 2022-03-17 Stoke Therapeutics, Inc. Compositions and methods for modulating splicing and protein expression

Also Published As

Publication number Publication date
CA3178334A1 (en) 2021-11-18
US20230174984A1 (en) 2023-06-08
WO2021226663A1 (en) 2021-11-18
JP2023526060A (ja) 2023-06-20
BR112022022893A2 (pt) 2023-03-14
CO2022017705A2 (es) 2023-02-16
PE20230739A1 (es) 2023-05-03
ECSP22093649A (es) 2023-02-28
MX2022014155A (es) 2023-04-11
EP4150094A1 (en) 2023-03-22
KR20230009965A (ko) 2023-01-17
AU2021272832A1 (en) 2022-12-15
CN115916977A (zh) 2023-04-04
IL298070A (en) 2023-01-01

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