News Releases & Research Results Development of a novel therapy for Alport syndrome using an oligonucleotide therapeutic: Remarkable effectiveness confirmed in model animal for refractory inherited kidney disease

News Releases & Research Results


The results of collaborative research conducted by Specially Appointed Professor Kandai Nozu, Assistant Professor Tomohiko Yamamura, Former Professor Masafumi Matsuo, and Professor Kazumoto Iijima of the Department of Pediatrics, Kobe University Graduate School of Medicine; Associate Professor Yutaka Takaoka of the Division of Medical Informatics and Bioinformatics, Kobe University Hospital; Professor Hirofumi Kai of Kumamoto University; Team Leader Minoru Takasato of RIKEN; and Daiichi Sankyo Company, Limited.

The key results of research are as follows:

  • For Alport syndrome* with severe-type mutations, for which treatment methods had not been established, the research group developed a therapy using an oligonucleotide therapeutic to replace the severe variant with the mild variant (exon-skipping therapy).
    * An inherited, intractable disease accompanied by nephritis, hearing loss, and ocular complications. In particular, men show severe phenotypes; 90% develop renal failure requiring renal replacement therapies including dialysis and kidney transplantation before the age of 40.
  • Through experiments using the disease model mice, it was demonstrated that this therapy was remarkably effective in suppressing the deterioration of renal functions and prolonging the survival period.

This research project was conducted with the support of the Practical Research Project for Rare/Intractable Diseases by AMED.

The results of research were published online in Nature Communications, an international scientific journal, on June 2.


Yamamura T., et al. Development of an Exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5 Nature Communications


Last updated 06/03/20