ECSP22093649A - 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
ECSP22093649A
ECSP22093649A ECSENADI202293649A ECDI202293649A ECSP22093649A EC SP22093649 A ECSP22093649 A EC SP22093649A EC SENADI202293649 A ECSENADI202293649 A EC SENADI202293649A EC DI202293649 A ECDI202293649 A EC DI202293649A EC SP22093649 A ECSP22093649 A EC SP22093649A
Authority
EC
Ecuador
Prior art keywords
syngap1
loss
function mutations
methods
compositions
Prior art date
Application number
ECSENADI202293649A
Other languages
English (en)
Inventor
Steven Petrou
Original Assignee
The Florey Inst Of Neuroscience And Mental Health
Priority date (The priority date 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 date listed.)
Filing date
Publication date
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 ECSP22093649A publication Critical patent/ECSP22093649A/es

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    • C12N15/113—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
    • A—HUMAN NECESSITIES
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    • C12Y306/00—Hydrolases acting on acid anhydrides (3.6)
    • C12Y306/05—Hydrolases acting on acid anhydrides (3.6) acting on GTP; involved in cellular and subcellular movement (3.6.5)
    • C12Y306/05002—Small monomeric GTPase (3.6.5.2)

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  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Enzymes And Modification Thereof (AREA)

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.
ECSENADI202293649A 2020-05-11 2022-12-09 Composiciones y métodos para tratar trastornos asociados a mutaciones de pérdida de función en syngap1 ECSP22093649A (es)

Applications Claiming Priority (2)

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
PCT/AU2021/050436 WO2021226663A1 (en) 2020-05-11 2021-05-11 Compositions and methods for treating disorders associated with loss-of-function mutations in syngap1

Publications (1)

Publication Number Publication Date
ECSP22093649A true ECSP22093649A (es) 2023-02-28

Family

ID=78525840

Family Applications (1)

Application Number Title Priority Date Filing Date
ECSENADI202293649A ECSP22093649A (es) 2020-05-11 2022-12-09 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) EP4150094A4 (es)
JP (2) JP7901535B2 (es)
KR (1) KR20230009965A (es)
CN (1) CN115916977A (es)
AU (1) AU2021272832A1 (es)
BR (1) BR112022022893A2 (es)
CA (1) CA3178334A1 (es)
CL (3) 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
MX2024005273A (es) * 2021-11-01 2024-07-10 Ionis Pharmaceuticals Inc Compuestos y metodos para reducir la expresion de psd3.
CA3252931A1 (en) * 2022-02-24 2023-08-31 Quiver Holdings Inc. THERAPEUTIC AGENTS FOR HAPLOINS SUFFICIENCY OF SYNGAP
US20260168040A1 (en) * 2022-04-05 2026-06-18 The Johns Hopkins University Agents for modulating syngap1 splicing
EP4627084A1 (en) * 2022-12-01 2025-10-08 Camp4 Therapeutics Corporation Modulation of syngap1 gene transcription using antisense oligonucleotides targeting regulatory rnas

Family Cites Families (11)

* Cited by examiner, † Cited by third party
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US6083695A (en) * 1996-04-15 2000-07-04 The University Of Houston Optimized primer library for gene sequencing and method of using same
EP2305813A3 (en) * 2002-11-14 2012-03-28 Dharmacon, Inc. Fuctional and hyperfunctional sirna
DK2205737T3 (da) * 2007-10-04 2013-05-21 Santaris Pharma As Mikromirer
JP2012507989A (ja) * 2008-11-07 2012-04-05 センター ホスピタライヤー ユニヴェルシテール サント−ジュスティーヌ Ｓｙｎｇａｐ１機能不全ならびに精神遅滞の診断および治療用途でのその使用
MX2011009751A (es) * 2009-03-16 2011-09-29 Opko Curna Llc Tratamiento de enfermedades relacionadas con factor nuclear (eritroide derivado 2) tipo 2 (nrf2) por inhibicion del transcrito antisentido natural a nrf2.
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
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CN116059236A (zh) * 2015-12-14 2023-05-05 冷泉港实验室 用于治疗常染色体显性精神发育迟滞5型和Dravet综合征的反义寡聚体
CA3061905A1 (en) * 2017-05-24 2018-11-29 The Regents Of The University Of California Antisense therapies for treating cancer
LT3700570T (lt) * 2017-10-23 2025-04-10 Stoke Therapeutics, Inc. Priešprasmiai oligomerai, skirti būklių ir ligų, pagrįstų nonsens kodono nulemta mrnr degradacija, gydymui
KR20220104677A (ko) * 2019-08-19 2022-07-26 스톡 테라퓨틱스, 인크. 스플라이싱 및 단백질 발현을 조절하기 위한 조성물 및 방법

Also Published As

Publication number Publication date
MX2022014155A (es) 2023-04-11
EP4150094A4 (en) 2024-10-09
JP2023526060A (ja) 2023-06-20
CL2022003145A1 (es) 2023-06-30
JP2026119106A (ja) 2026-07-16
KR20230009965A (ko) 2023-01-17
CO2022017705A2 (es) 2023-02-16
BR112022022893A2 (pt) 2023-03-14
JP7901535B2 (ja) 2026-08-06
PE20230739A1 (es) 2023-05-03
CL2025001268A1 (es) 2025-08-08
CA3178334A1 (en) 2021-11-18
CN115916977A (zh) 2023-04-04
WO2021226663A1 (en) 2021-11-18
IL298070A (en) 2023-01-01
EP4150094A1 (en) 2023-03-22
US20230174984A1 (en) 2023-06-08
CL2025001270A1 (es) 2025-08-08
AU2021272832A1 (en) 2022-12-15

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