公开(公告)号：WO2014209841A2

公开(公告)日：2014-12-31

申请号：PCT/US2014043577

申请日：2014-06-23

Applicant: HOFFMANN LA ROCHE ,  HOFFMANN LA ROCHE ,  PTC THERAPEUTICS INC

Inventor： DAKKA AMAL ,  GREEN LUKE ,  KARP GARY ,  NARASIMHAN JANA ,  NARYSHKIN NIKOLAI ,  PINARD EMMANUEL ,  QI HONGYAN ,  RATNI HASANE ,  RISHER NICOLE ,  WEETALL MARLA ,  WOLL MATTHEW

IPC: A61K31/4985

CPC classification number: C07D519/00 ,  C07D263/56 ,  C07D413/12 ,  C07D471/04 ,  C07D487/04 ,  C07D487/10

Abstract: The present invention provides compounds of formula (I) wherein A, B, X, Y, R1 and R2 are as described herein, as well as pharmaceutically acceptable salts thereof. Further the present invention is concerned with the manufacture of the compounds of formula (I), pharmaceutical compositions comprising them and their use as medicaments.

Abstract translation: 本发明提供其中A，B，X，Y，R 1和R 2如本文所述的式（I）化合物及其药学上可接受的盐。 此外，本发明涉及制备式（I）化合物，包含它们的药物组合物及其作为药物的用途。

公开(公告)号：WO2013119916A3

公开(公告)日：2013-10-24

申请号：PCT/US2013025292

申请日：2013-02-08

Applicant: PTC THERAPEUTICS INC ,  HOFFMANN LA ROCHE

Inventor： QI HONGYAN ,  CHOI SOONGYU ,  DAKKA AMAL ,  KARP GARY MITCHELL ,  NARASIMHAN JANA ,  NARYSHKIN NIKOLAI ,  TURPOFF ANTHONY A ,  WEETALL MARIA L ,  WELCH ELLEN ,  WOLL MATTHEW G ,  YANG TIANLE ,  ZHANG NANJING ,  ZHANG XIAOYAN ,  ZHAO XIN ,  GREEN LUKE ,  PINARD EMMANUEL ,  RATNI HASANE

IPC: A61K31/53 ,  A01N43/90 ,  A61K31/519 ,  C07D239/70

CPC classification number: C07D471/04 ,  A61K31/519 ,  C07D239/70 ,  C07D487/04 ,  C07D519/00

Abstract: Provided herein are compounds, compositions thereof and uses therewith for treating spinal muscular atrophy.

Abstract translation: 本文提供了化合物，其组合物，并用于治疗脊髓性肌肉萎缩。

公开(公告)号：EP2812004A4

公开(公告)日：2015-11-11

申请号：EP13747100

申请日：2013-02-08

Applicant: PTC THERAPEUTICS INC ,  HOFFMANN LA ROCHE

Inventor： QI HONGYAN ,  CHOI SOONGYU ,  DAKKA AMAL ,  KARP GARY MITCHELL ,  NARASIMHAN JANA ,  NARYSHKIN NIKOLAI ,  TURPOFF ANTHONY A ,  WEETALL MARLA L ,  WELCH ELLEN ,  WOLL MATTHEW G ,  YANG TIANLE ,  ZHANG NANJING ,  ZHANG XIAOYAN ,  ZHAO XIN ,  GREEN LUKE ,  PINARD EMMANUEL ,  RATNI HASANE

IPC: A61K31/53 ,  A61K31/4375 ,  A61K31/519 ,  A61P25/00 ,  C07D471/04 ,  C07D487/04 ,  C07D519/00

CPC classification number: C07D471/04 ,  A61K31/519 ,  C07D239/70 ,  C07D487/04 ,  C07D519/00

Abstract: Provided herein are compounds, compositions thereof and uses therewith for treating spinal muscular atrophy.

Abstract translation: 本文提供了化合物，其组合物，并用于治疗脊髓性肌肉萎缩。

公开(公告)号：PE20220139A1

公开(公告)日：2022-01-27

申请号：PE2021001329

申请日：2020-02-10

Applicant: PTC THERAPEUTICS INC

Inventor： ZHANG NANJING ,  ARNOLD MICHAEL A ,  DAKKA AMAL ,  KARP GARY MITCHELL ,  LUONG TOM TUAN ,  NARASIMHAN JANA ,  NARYSHKIN NIKOLAI A ,  WANG JIASHI ,  ZHANG XIAOYAN

IPC: A61P25/00 ,  A61K31/4365 ,  C07D495/04

Abstract: La presente invencion se refiere a compuestos derivados de tieno[3,2-b]piridina de Formula (I), o una forma de sal del mismo, donde: R1 se selecciona de fenilo y heteroarilo de 5-8 miembros, opcionalmente sustituido con uno, dos, tres o cuatro sustituyentes R1a seleccionados independientemente; R1a se selecciona de ciano, halo, hidroxi, alquilo C1-6, halo-alquilo C1-6 y alcoxi C1-6; R3 se selecciona de hidrogeno, alquilo C1-6, alquenilo C2-6, alquinilo C2-6 y alquilo C1-6-amino, en donde cada alquilo C1-6, alquenilo C2-6 y alquinilo C2-6 esta opcionalmente sustituido con uno, dos, tres o cuatro sustituyentes R3a seleccionados independientemente, y en cada caso, pueden contener opcionalmente un carbono quiral de configuracion (R) o (S); R3a se selecciona de ciano, halo, hidroxi, oxo, alquilo C1-6, halo-alquilo C1-6, entre otros; R4 se selecciona de hidrogeno, ciano, halo, hidroxi, alquilo C1-6, halo-alquilo C1-6, entre otros; R5 se selecciona de hidrogeno, ciano, halo, hidroxi, alquilo C1-6, halo-alquilo C1-6, entre otros; R6 se selecciona de hidrogeno, halo y alquilo C1-6. Tambien se refiere a composiciones farmaceuticas. Dichos compuestos corresponden son utiles para mejorar el corte y empalme de pre-ARNm en una celula, para tratar o mejorar la disautonomia familiar.

公开(公告)号：CA2861609C

公开(公告)日：2021-02-16

申请号：CA2861609

申请日：2012-12-28

Applicant: PTC THERAPEUTICS INC ,  HOFFMANN LA ROCHE

Inventor： WOLL MATTHEW G ,  CHEN GUANGMING ,  CHOI SOONGYU ,  DAKKA AMAL ,  HUANG SONG ,  KARP GARY MITCHELL ,  LEE CHANG-SUN ,  LI CHUNSHI ,  NARASIMHAN JANA ,  NARYSHKIN NIKOLAI ,  PAUSHKIN SERGEY ,  QI HONGYAN ,  TURPOFF ANTHONY A ,  WEETALL MARLA L ,  WELCH ELLEN ,  YANG TIANLE ,  ZHANG NANJING ,  ZHANG XIAOYAN ,  ZHAO XIN ,  PINARD EMMANUEL ,  RATNI HASANE

IPC: C07D487/04 ,  A61K31/352 ,  A61K31/395 ,  A61K31/423 ,  A61K31/4245 ,  A61K31/428 ,  A61K31/429 ,  A61K31/437 ,  A61K31/4433 ,  A61K31/496 ,  A61K31/5025 ,  A61K31/519 ,  A61P21/00 ,  C07D405/14 ,  C07D413/14 ,  C07D417/14 ,  C07D471/04 ,  C07D491/048 ,  C07D495/04 ,  C07D498/04 ,  C07D513/04 ,  C07D519/00

Abstract: Provided herein are compounds, compositions thereof and uses therewith for treating spinal muscular atrophy. In a specific embodiment, provided herein are compounds of a form that may be used to modulate the inclusion of exon 7 of SMN2 into mRNA that is transcribed from the SMN2 gene. In another specific embodiment, provided herein are compounds of a form that may be used to modulate the inclusion of exon 7 of SMN1 into mRNA that is transcribed from the SMN1 gene. In yet another embodiment, provided herein are compounds of a form that may be used to modulate the inclusion of exon 7 of SMN1 and SMN2 into mRNA that is transcribed from the SMN1 and SMN2 genes, respectively.

公开(公告)号：AU2018284853A1

公开(公告)日：2019-12-19

申请号：AU2018284853

申请日：2018-06-13

Applicant: PTC THERAPEUTICS INC

Inventor： BHATTACHARYYA ANURADHA ,  DAKKA AMAL ,  EFFENBERGER KERSTIN ,  GABBETA VIJAYALAKSHMI ,  JANI MINAKSHI B ,  LI WENCHENG ,  NARYSHKIN NIKOLAI ,  TROTTA CHRISTOPHER ,  WIEDINGER KARI

IPC: A61K48/00 ,  A61K31/501 ,  A61K31/711 ,  C12N15/11

Abstract: Described herein is an intronic recognition element for splicing modifier (iREMS) that can be recognized by a small molecule splicing modifier compound of Formula (I) provided herein or a form thereof, wherein W, X, A and B are as defined herein. In one aspect, methods for modifying RNA splicing to modulate the amount of a product of a gene, wherein a precursor RNA transcript transcribed from the gene that contains an intronic REMS is modified utilizing a splicing modifier compound of Formula (I), are described herein. In another aspect, methods for modifying RNA splicing to modulate the amount of an RNA transcript or protein product encoded by a gene, wherein a precursor RNA transcript transcribed from the gene is modified to comprise an intronic REMS utilizing a splicing modifier compound of Formula (I), are described herein.

公开(公告)号：PL2809322T3

公开(公告)日：2019-11-29

申请号：PL13740919

申请日：2013-01-25

Applicant: PTC THERAPEUTICS INC

Inventor： CHEN GUANGMING ,  DAKKA AMAL ,  KARP GARY MITCHELL ,  LI CHUNSHI ,  NARASIMHAN JANA ,  NARYSHKIN NIKOLAI ,  WEETALL MARLA L ,  WELCH ELLEN ,  ZHAO XIN

IPC: A61K31/44 ,  A01N43/42

公开(公告)号：HUE039779T2

公开(公告)日：2019-02-28

申请号：HUE13747100

申请日：2013-02-08

Applicant: PTC THERAPEUTICS INC ,  HOFFMANN LA ROCHE

Inventor： QI HONGYAN ,  CHOI SOONGYU ,  DAKKA AMAL ,  KARP GARY ,  NARASIMHAN JANA ,  NARYSHKIN NIKOLAI ,  TURPOFF ANTHONY ,  WEETALL MARLA ,  WELCH ELLEN ,  WOLL MATTHEW ,  YANG TIANLE ,  ZHANG NANJING ,  ZHANG XIAOYAN ,  ZHAO XIN ,  GREEN LUKE ,  PINARD EMMANUEL ,  RATNI HASANE

IPC: A61K31/53 ,  A61P25/00

公开(公告)号：AU2013216870B2

公开(公告)日：2017-07-20

申请号：AU2013216870

申请日：2013-02-08

Applicant: HOFFMANN LA ROCHE ,  PTC THERAPEUTICS INC

Inventor： QI HONGYAN ,  CHOI SOONGYU ,  DAKKA AMAL ,  KARP GARY MITCHELL ,  NARASIMHAN JANA ,  NARYSHKIN NIKOLAI ,  TURPOFF ANTHONY A ,  WEETALL MARLA L ,  WELCH ELLEN ,  WOLL MATTHEW G ,  YANG TIANLE ,  ZHANG NANJING ,  ZHANG XIAOYAN ,  ZHAO XIN ,  GREEN LUKE ,  PINARD EMMANUEL ,  RATNI HASANE

IPC: C07D239/70 ,  A01N43/90 ,  A61K31/519 ,  A61K31/53

Abstract: Provided herein are compounds, compositions thereof and uses therewith for treating spinal muscular atrophy.

公开(公告)号：AR092794A1

公开(公告)日：2015-05-06

申请号：ARP130100450

申请日：2013-02-14

Applicant: PTC THERAPEUTICS INC ,  HOFFMANN LA ROCHE

Inventor： QI HONGYAN ,  CHOI SOONGYU ,  DAKKA AMAL ,  KARP GARY MITCHELL ,  NARASIMHAN JANA ,  NARYSHKIN NIKOLAI ,  TURPOFF ANTHONY A ,  WEETALL MARLA L ,  WELCH ELLEN ,  WOLL MATTHEW G ,  YANG TIANLE ,  ZHANG NANJING ,  ZHANG XIAOYAN ,  ZHAO XIN ,  GREEN LUKE ,  PINARD EMMANUEL ,  RATNI HASANE