Provided is a pharmaceutical composition for a genetic disease associated with splicing abnormalities. A pharmaceutical composition for the prevention, amelioration, progression prevention and/or treatment of a genetic disease associated with splicing abnormalities, which contains, as an active ingredient, a compound capable of preventing splicing abnormalities that is one of causes of the development or progression of the genetic disease； and a method for the prevention, amelioration, progression prevention and/or treatment of a genetic disease associated with splicing abnormalities using a compound capable of preventing splicing abnormalities that is one of causes of the development or progression of the genetic disease.本發明提供一種用於起因於剪接異常之遺傳性疾病的醫藥組合物。 本發明係一種醫藥組合物及使用其之方法，該醫藥組合物包含可抑制成為起因於剪接異常之遺傳性疾病之發病或進展之一個原因之剪接異常的化合物作為有效成分，且用於該遺傳性疾病之預防、改善、進展抑制、及/或治療；該方法係使用可抑制成為起因於剪接異常之遺傳性疾病之發病或進展之一個原因之剪接異常的化合物，對該遺傳性疾病進行預防、改善、進展抑制及/或治療。
