公开(公告)号：US20220098252A1

公开(公告)日：2022-03-31

申请号：US17425359

申请日：2020-01-27

Applicant: OSPEDALE SAN RAFFAELE S.R.L. ,  FONDAZIONE CENTRO SAN RAFFAELE

Inventor： Davide GABELLINI ,  Roberto GIAMBRUNO ,  Valeria RUNFOLA ,  Claudia CARONNI

IPC: C07K14/47 ,  C12N15/63 ,  A61P35/02 ,  A61P25/00

Abstract: The present invention relates to an inhibitor of DUX4 and its use, in particular in the prevention and/or treatment of a condition associated with an aberrant expression and/or function of at least one DUX4 protein and/or of at least one DUX4 fusion protein. Preferably the inhibitor is MATRIN-3 (MATR3), fragment, variant, fusion, or conjugate thereof. The invention also relates to a pharmaceutical composition comprising such inhibitor, to vector and nucleic acids.