Ptc Therapeutics, Inc.

F. Hoffmann-La Roche Ag

Amgen Inc.

Ellen Welch

Nikolai A Naryshkin

James Jan Takasugi

Gary Mitchell Karp

Neil Gregory Almstead

Richard Gerald Wilde

Marla L Weetall

Guangming Chen

Jana Narasimhan

Xin Zhao

Amal Dakka

Emmanuel Pinard

Hasane Ratni

Soongyu Choi

Xiaoyan Zhang

Hongyan Qi

Nanjing Zhang

Matthew G Woll

Tianle Yang

Jeffrey Allen Campbell

Anthony A Turpoff

Sergey Paushkin

Luke Green

Charles Romfo

Yuki Tomizawa

Westley J Friesen

Young-Choon Moon

Seongwoo Hwang

Peter Seongwoo Hwang

Hongyu Ren

Mandar V Dali

Chunshi Li

Holger Beckmann

Meenal Patel

Jin Zhuo

Atiyya Kahn

Nikolai Naryshkin

Steven Marc Rubenstein

Chang-Sun Lee

Song Xiao Huang

Paul D Kennedy

Maria L Weetall

Samit Hirawat

Langdon Miller

Robert F Rando

Jin Zhou

Anthony A Yurpoff

Priya Vazirani

Mathew C Pellegrini

Song Huang

James Takasugi

Jemes J Takasugi

Paul Kennedy

Provided herein are compounds of Formula (I): and forms thereof, wherein w, w, w, w, w, wand ware as defined herein, including compositions thereof and uses therewith for treating spinal muscular atrophy.

Compounds for treating spinal muscular atrophy

Provided herein are compounds of Formula (I): 

Provided herein are pharmaceutical compositions, which comprise a 1,2,4-oxadiazole benzoic acid or a pharmaceutically acceptable salt thereof. Further provided herein are certain pharmaceutically acceptable salts of a 1,2,4-oxadiazole benzoic acid and methods for making the same. Further provided herein are methods of treating or preventing a disease associated with a nonsense mutation or a premature stop codon, comprising administering such pharmaceutical compositions or pharmaceutically acceptable salts to a patient having a disease associated with a nonsense mutation or a premature stop codon.

Pharmaceutical compositions and salts of a 1,2,4-oxadiazole benzoic acid

Provided herein are methods of treating, preventing, ameliorating or managing a nonsense mutation mediated epileptic disease, comprising administering a 1,2,4-oxadiazole benzoic acid to a patient having a nonsense mutation mediated epileptic disease. In particular, provided herein are methods of treating, preventing, ameliorating or managing a CDKL5 and/or SCN1A (Dravet syndrome) nonsense mutation mediated epileptic disease.

Methods for treating epilepsy

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.

Provided herein are compounds of Formula (I): and forms thereof, including compositions thereof and uses therewith for treating spinal muscular atrophy.

The present invention relates to methods, compounds, and compositions for treating or preventing diseases associated with nonsense mutations in an mRNA by administering the compounds or compositions of the present invention. More particularly, the present invention relates to methods, compounds, and compositions for suppressing premature translation termination associated with a nonsense mutation in an mRNA.

1,3,4-oxadiazole benzoic acid compounds and their use for nonsense suppression and the treatment of disease

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

The present invention provides compounds and assays for the identification and validation of compounds for use in the treatment of muscular mystrophy (MD), or a form thereof, in which said compounds increase the post-transcriptional expression of a target gene (i.e., mIGF1, ITGA7, or UTRN).

Methods of screening for compounds for treating muscular dystrophy using human ALPHA7 integrin mRNA translation regulation

Compounds for nonsense suppression, and methods for their use

The present invention relates to functional proteins encoded by nucleic acid sequences comprising a nonsense mutation. The present invention also relates to methods for the production of functional proteins encoded by nucleic acid sequences comprising a nonsense mutation and the use of such proteins for prevention, management and/or treatment of diseases associated with a nonsense mutation(s) in a gene.

Methods for the production of functional protein from DNA having a nonsense mutation and the treatment of disorders associated therewith

Growing community of inventors

Califon, NJ, United States of America

Ellen Welch