公开(公告)号：US20190300906A1

公开(公告)日：2019-10-03

申请号：US16302341

申请日：2017-05-18

Applicant: MODERNATX, INC.

Inventor： Paolo MARTINI ,  Stephen HOGE ,  Kerry BENENATO ,  Vladimir PRESNYAK ,  Iain McFADYEN ,  Ellalahewage Sathyajith KUMARASINGHE ,  Ding AN ,  Staci SABNIS

IPC: C12N15/88 ,  C07K14/14 ,  C12N9/12 ,  B82Y5/00 ,  G01N33/68 ,  A61K9/51

Abstract: The invention relates to mRNA therapy for the treatment of galactosemia type 1 (Gal-1). mRNAs for use in the invention, when administered in vivo, encode human galactose-1-phosphate uridylyltransferase (GALT), isoforms thereof, functional fragments thereof, and fusion proteins comprising GALT. mRNAs of the invention are preferably encapsulated in lipid nanoparticles (LNPs) to effect efficient delivery to cells and/or tissues in subjects, when administered thereto. mRNA therapies of the invention increase and/or restore deficient levels of GALT expression and/or activity in subjects. mRNA therapies of the invention further decrease levels of toxic metabolites associated with deficient GALT activity in subjects, namely galactose-1-phosphate (Gal-1-P).