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PE20230739A1 - Composiciones y metodos para tratar trastornos asociados a mutaciones de perdida de funcion en syngap1 - Google Patents

Composiciones y metodos para tratar trastornos asociados a mutaciones de perdida de funcion en syngap1

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Publication number
PE20230739A1
PE20230739A1 PE2022002642A PE2022002642A PE20230739A1 PE 20230739 A1 PE20230739 A1 PE 20230739A1 PE 2022002642 A PE2022002642 A PE 2022002642A PE 2022002642 A PE2022002642 A PE 2022002642A PE 20230739 A1 PE20230739 A1 PE 20230739A1
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PE
Peru
Prior art keywords
syngap1
function mutations
loss
mrna
methods
Prior art date
Application number
PE2022002642A
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 PE20230739A1 publication Critical patent/PE20230739A1/es

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Abstract

La presente divulgacion se refiere en general a composiciones y metodos adecuados para tratar un trastorno asociado a mutaciones de perdida de funcion en SYNGAP1. Mas especificamente, la divulgacion se refiere a metodos para tratar un trastorno asociado a mutaciones heterocigoticas de perdida de funcion de SYNGAP1 y a oligonucleotidos antisentido especificos para SYNGAP1, y a su uso para tratar un trastorno asociado a mutaciones heterocigoticas de perdida de funcion de SYNGAP1. Esta referida a un metodo para aumentar los niveles de la proteina SynGAP1 en una celula, que comprende poner en contacto la celula con un oligonucleotido antisentido que potencia el corte y empalme en un sitio de corte y empalme de un intron retenido en un ARNm o pre-ARNm de SynGAP1 de retencion de intrones, en donde el intron retenido se selecciona de entre el intron 5, 8, 9, 12, 13 y 14, y en donde el oligonucleotido antisentido comprende una secuencia de nucleobases que es complementaria a una region diana en el ARNm o pre-ARNm de SynGAP1.
PE2022002642A 2020-05-11 2021-05-11 Composiciones y metodos para tratar trastornos asociados a mutaciones de perdida de funcion en syngap1 PE20230739A1 (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
PE20230739A1 true PE20230739A1 (es) 2023-05-03

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Country Link
US (1) US20230174984A1 (es)
EP (1) EP4150094A4 (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 (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
US20230167446A1 (en) * 2021-11-01 2023-06-01 Ionis Pharmaceuticals, Inc. Compounds and methods for reducing psd3 expression
EP4482958A1 (en) * 2022-02-24 2025-01-01 Q-State Biosciences, Inc. Therapeutics for syngap haploinsufficiency
EP4504942A2 (en) * 2022-04-05 2025-02-12 The Johns Hopkins University Agents for modulating syngap1 splicing
CN120435559A (zh) * 2022-12-01 2025-08-05 4阵营疗法公司 使用靶向调节rna的反义寡核苷酸调控syngap1基因转录

Family Cites Families (8)

* 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
AU2008306327B2 (en) * 2007-10-04 2014-05-15 Roche Innovation Center Copenhagen A/S Micromirs
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
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
US11096956B2 (en) * 2015-12-14 2021-08-24 Stoke Therapeutics, Inc. Antisense oligomers and uses thereof
US11083745B2 (en) * 2015-12-14 2021-08-10 Cold Spring Harbor Laboratory Antisense oligomers for treatment of autosomal dominant mental retardation-5 and Dravet Syndrome
HRP20250322T1 (hr) * 2017-10-23 2025-06-06 Stoke Therapeutics, Inc. Protusmisleni oligomeri, namijenjeni liječenju stanja i bolesti uzrokovanih raspadanjem rna posredovanim besmislenim mutacijama
WO2021034985A1 (en) * 2019-08-19 2021-02-25 Stoke Therapeutics, Inc. Compositions and methods for modulating splicing and protein expression

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EP4150094A1 (en) 2023-03-22
US20230174984A1 (en) 2023-06-08
WO2021226663A1 (en) 2021-11-18
BR112022022893A2 (pt) 2023-03-14
AU2021272832A1 (en) 2022-12-15
CL2022003145A1 (es) 2023-06-30
JP2023526060A (ja) 2023-06-20
KR20230009965A (ko) 2023-01-17
CN115916977A (zh) 2023-04-04
EP4150094A4 (en) 2024-10-09
IL298070A (en) 2023-01-01
MX2022014155A (es) 2023-04-11
ECSP22093649A (es) 2023-02-28
CL2025001270A1 (es) 2025-08-08
CA3178334A1 (en) 2021-11-18
CL2025001268A1 (es) 2025-08-08
CO2022017705A2 (es) 2023-02-16

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