CL2020002955A1 - Composiciones y métodos para reducir la empalmopatía y para tratar trastornos de dominancia del arn. - Google Patents

Composiciones y métodos para reducir la empalmopatía y para tratar trastornos de dominancia del arn.

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Publication number
CL2020002955A1
CL2020002955A1 CL2020002955A CL2020002955A CL2020002955A1 CL 2020002955 A1 CL2020002955 A1 CL 2020002955A1 CL 2020002955 A CL2020002955 A CL 2020002955A CL 2020002955 A CL2020002955 A CL 2020002955A CL 2020002955 A1 CL2020002955 A1 CL 2020002955A1
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Chile
Prior art keywords
rna
splicing
compositions
methods
patient
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CL2020002955A
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English (en)
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Joel Chamberlain
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Univ Washington
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    • A61K31/7088—Compounds having three or more nucleosides or nucleotides
    • A61K31/7105—Natural ribonucleic acids, i.e. containing only riboses attached to adenine, guanine, cytosine or uracil and having 3'-5' phosphodiester links
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Abstract

La descripción presenta composiciones y métodos para el tratamiento de trastornos asociados con empalmes inapropiados de ácido ribonucleico (ARN), incluidos trastornos caracterizados por retención nuclear de transcriptos de ARN que contienen regiones de repetición aberrantemente expandidas que se unen y secuestran proteínas de factor de empalme. En la presente se <br /> describen construcciones de ARN de interferencia que suprimen la expresión de transcriptos de ARN que contienen regiones de repetición expandidas, así como vectores virales, tal como vectores virales adenoasociados, que codifican para estas moléculas de ARN de interferencia. Por ejemplo, la descripción presenta moléculas de ARN de interferencia, tal como construcciones de ARNip, miARN y ARNhc, que recojan transcriptos de ARN de distrofia miotónica proteína cinasa (DMPK) y atenúen la expresión de repeticiones de trinucleótidos CUG expandidas que contienen ARN de DMPK. Al utilizar las composiciones y métodos descritos en la presente, a un paciente que tiene un trastorno de dominancia de ARN, tal como un paciente humano que tiene distrofia miotónica, entre otras condiciones descritas en la presente, se le puede administrar una construcción de ARN de interferencia o vector que contiene la misma a fin de reducir la presentación de empalmopatía en el paciente, tratando de esta manera una etiología subyacente de la enfermedad.
CL2020002955A 2018-05-15 2020-11-13 Composiciones y métodos para reducir la empalmopatía y para tratar trastornos de dominancia del arn. CL2020002955A1 (es)

Applications Claiming Priority (1)

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US201862671769P 2018-05-15 2018-05-15

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CL2020002955A1 true CL2020002955A1 (es) 2021-04-23

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US (1) US20210269825A1 (es)
EP (1) EP3793566A4 (es)
JP (1) JP2021522836A (es)
KR (1) KR20210010549A (es)
CN (1) CN112469421A (es)
AU (1) AU2019268346A1 (es)
BR (1) BR112020023298A2 (es)
CA (1) CA3098249A1 (es)
CL (1) CL2020002955A1 (es)
CO (1) CO2020015239A2 (es)
MA (1) MA51938B1 (es)
MX (1) MX2020012269A (es)
PH (1) PH12020551913A1 (es)
SG (1) SG11202011151VA (es)
WO (1) WO2019222354A1 (es)

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CN113166208B (zh) 2018-10-02 2024-11-22 沃雅戈治疗公司 重新定向aav衣壳的嗜性
TWI900553B (zh) 2020-05-13 2025-10-11 美商航海家醫療公司 Aav蛋白殼之趨性重定向
WO2023034870A2 (en) 2021-09-01 2023-03-09 Ionis Pharmaceuticals, Inc. Compounds and methods for reducing dmpk expression
EP4426716A1 (en) 2021-11-02 2024-09-11 Voyager Therapeutics, Inc. Aav capsid variants and uses thereof
WO2023196862A1 (en) * 2022-04-06 2023-10-12 Genzyme Corporation Targeted gene therapy for dm-1 myotonic dystrophy
US20250352672A1 (en) * 2022-05-13 2025-11-20 University Of Washington Method for treatment of myotonic dystrophy combining protein expression and rna interference vector delivery with tissue detargeting
TW202409289A (zh) * 2022-06-27 2024-03-01 美商安斯泰來基因治療股份有限公司 用於治療肌強直性營養不良之組合物及方法
US20240384271A1 (en) * 2023-04-05 2024-11-21 Genzyme Corporation Targeted gene therapy for dm-1 myotonic dystrophy
WO2024229164A2 (en) * 2023-05-03 2024-11-07 Voyager Therapeutics, Inc. Compositions and methods for the treatment of disorders related to dystrophia myotonica protein kinase
WO2025038795A1 (en) * 2023-08-16 2025-02-20 Voyager Therapeutics, Inc. Compositions and methods for the treatment of disorders related to dystrophia myotonica protein kinase
WO2025122536A1 (en) * 2023-12-05 2025-06-12 Voyager Therapeutics, Inc. Compositions and methods for the treatment of disorders related to dystrophia myotonica protein kinase
WO2025259747A2 (en) * 2024-06-12 2025-12-18 Alnylam Pharmaceuticals, Inc. Dystrophy myotonic protein kinase (dmpk) irna compositions and methods of use thereof

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US5977333A (en) * 1992-02-06 1999-11-02 Massachusetts Institute Of Technology DNA sequence encoding the myotonic dystrophy gene and uses thereof
US20050042646A1 (en) * 2002-08-05 2005-02-24 Davidson Beverly L. RNA interference suppresion of neurodegenerative diseases and methods of use thereof
US20120322861A1 (en) * 2007-02-23 2012-12-20 Barry John Byrne Compositions and Methods for Treating Diseases
EP2595663A4 (en) * 2010-07-19 2014-03-05 Isis Pharmaceuticals Inc MODULATION OF DYSTROPHIA MYOTONICA PROTEIN KINASE (DMPK) EXPRESSION
HRP20190992T1 (hr) * 2014-12-24 2019-09-20 Uniqure Ip B.V. Suprimiranje gena za huntingtin inducirano s rnai
WO2017079291A1 (en) * 2015-11-02 2017-05-11 Ionis Pharmaceuticals, Inc. Compounds and methods for modulating c90rf72
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CN112292895B (zh) * 2018-08-10 2024-06-14 富士通株式会社 一种通信方法、装置和通信系统

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PH12020551913A1 (en) 2021-06-14
BR112020023298A2 (pt) 2021-03-09
EP3793566A4 (en) 2022-03-16
MA51938A1 (fr) 2021-11-30
CN112469421A (zh) 2021-03-09
MA51938B1 (fr) 2022-10-31
WO2019222354A1 (en) 2019-11-21
MX2020012269A (es) 2021-04-28
KR20210010549A (ko) 2021-01-27
US20210269825A1 (en) 2021-09-02
JP2021522836A (ja) 2021-09-02
SG11202011151VA (en) 2020-12-30
EP3793566A1 (en) 2021-03-24
AU2019268346A1 (en) 2020-12-24
CO2020015239A2 (es) 2021-03-08
CA3098249A1 (en) 2019-11-21

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