Masato Fujioka, Takumi Akiyama, Makoto Hosoya, Kayoko Kikuchi, Yuto Fujiki, Yasuko Saito, Keisuke Yoshihama, Hiroyuki Ozawa, Keita Tsukada, Shin-Ya Nishio, Shin-Ichi Usami, Tatsuo Matsunaga, Tomonobu Hasegawa, Yasunori Sato, Kaoru Ogawa
INTRODUCTION: Pendred syndrome (PDS)/DFNB 4 is a disorder with fluctuating and progressive hearing loss, vertigo, and thyroid goiter. We identified pathophysiology of a neurodegenerative disorder in PDS patient derived cochlear cells that were induced via induced pluripotent stem cells and found sirolimus, an mTOR inhibitor, as an inhibitor of cell death with the minimum effective concentration less than 1/10 of the approved dose for other diseases. Given that there is no rational standard therapy for PDS, we planned a study to examine effects of low dose oral administration of sirolimus for the fluctuating and progressive hearing loss, and the balance disorder of PDS by daily monitor of their audio-vestibular symptoms...
May 2020: Medicine (Baltimore)