The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Aug. 05, 2025
Filed:
Jul. 21, 2022
Polynucleotides encoding porphobilinogen deaminase for the treatment of acute intermittent porphyria
Modernatx, Inc., Cambridge, MA (US);
Fundacion Para LA Investigacion Medica Aplicada, Pamplona, ES;
Paolo Martini, Boston, MA (US);
Stephen Hoge, Brookline, MA (US);
Kerry Benenato, Sudbury, MA (US);
Vladimir Presnyak, Manchester, NH (US);
Lei Jiang, Cambridge, MA (US);
Iain Mcfadyen, Arlington, MA (US);
Ellalahewage Sathyajith Kumarasinghe, Harvard, MA (US);
Antonio Fontanellas Roma, Pamplona, ES;
Pedro Berraondo Lopez, Pamplona, ES;
Matias Antonio Avila Zaragoza, Pamplona, ES;
Lin Tung Guey, Lexington, MA (US);
Staci Sabnis, Medford, MA (US);
ModernaTX, Inc., Cambridge, MA (US);
Fundacion Para La Investigacion Medica Aplicada, Pamplona, ES;
Abstract
The invention relates to mRNA therapy for the treatment of Acute Intermittent Porphyria (AIP). mRNAs for use in the invention, when administered in vivo, encode human porphobilinogen deaminase (PBGD), isoforms thereof, functional fragments thereof, and fusion proteins comprising PBGD. mRNAs of the invention are preferably encapsulated in lipid nanoparticles (LNPs) to affect efficient delivery to cells and/or tissues in subjects, when administered thereto. mRNA therapies of the invention increase and/or restore deficient levels of PBGD expression and/or activity in subjects. mRNA therapies of the invention further decrease levels of toxic metabolites associated with deficient PBGD activity in subjects, namely porphobilinogen and aminolevulinate (PBG and ALA).