申请人:PTC Therapeutics Inc.
公开号:US20150119380A1
公开(公告)日:2015-04-30
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.
本文提供了用于治疗脊髓性肌萎缩症的化合物、其组合物及与其一起使用的用途。在一个具体实施例中,本文提供了一种可以用来调节SMN2基因转录的mRNA中包含外显子7的形式化合物。在另一个具体实施例中,本文提供了一种可以用来调节SMN1基因转录的mRNA中包含外显子7的形式化合物。在另一个实施例中,本文提供了一种可以用来调节SMN1和SMN2基因转录的mRNA中包含外显子7的形式化合物。