Patent SG-11201810162P-A (SG)
Title: Polynucleotides encoding citrin for the treatment of citrullinemia type 2
Inventor: MARTINI PAOLO
IPC: A61P3/00
Filed: 2017-05-18
Abstract: INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property MD 1101111 0 111010101111101011111 0 011111111111111111111111111111111111111111111111 Organization International Bureau (10) International Publication Number (43) International Publication Date .....0\"\"\"1 WO 2017/201349 Al 23 November 2017 (23.11.2017) WIPO I PCT (51) International Patent Classification: SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, A61K 38/17 (2006.01) A61P 3/00 (2006.01) TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW. C07K 14/47 (2006.01) A61K 9/127 (2006.01) (84) Designated States (unless otherwise indicated, for every (21) International Application Number: kind of regional protection available): ARIPO (BW, GH, PCT/US2017/033421 GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, (22) International Filing Date: UG, ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, RU, TJ, 18 May 2017 (18.05.2017) TM), European (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, (25) Filing Language: English MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, (26) Publication Language: English TR), OAPI (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG). (30) Priority Data: 62/338,479 18 May 2016 (18.05.2016) US Published: — with international search report (Art. 21(3)) (71) Applicant: MODERNATX, INC. [US/US]; 200 Technol- — with sequence listing part of description (Rule 5.2(a)) ogy Square, Cambridge, Massachusetts 02139 (US). (72) Inventors: MARTINI, Paolo; c/o Modernatx, Inc., 200 Technology Square, Cambridge, Massachusetts 02139 (US). HOGE, Stephen; c/o Modernatx, Inc., 200 Tech- nology Square, Cambridge, Massachusetts 02139 (US). BENENATO, Kerry; c/o Modernatx, Inc., 200 Tech- nology Square, Cambridge, Massachusetts 02139 (US). PRESNYAK, Vladimir; c/o Modernatx, Inc., 200 Tech- nology Square, Cambridge, Massachusetts 02139 (US). MCFADYEN, lain; c/o Modernatx, Inc., 200 Technolo- Square, Cambridge, Massachusetts 02139 (US). KU- gy MARASINGHE, Ellalahewage Sathyajith; c/o Moder- natx, Inc., 200 Technology Square, Cambridge, Massachu- setts 02139 (US). CAO, Jinsong; c/o Modernatx, Inc., 200 Technology Square, Cambridge, Massachusetts 02139 (US). GUEY, Lin Tung; c/o Modernatx, Inc., 200 Technol- ogy Square, Cambridge, Massachusetts 02139 (US). SAB- NIS, Staci; c/o Modernatx, Inc., 200 Technology Square, Cambridge, Massachusetts 02139 (US). (74) Agent: NANNENGA-COMBS, Bonnie W. Sterne, et al.; Kessler, Goldstein & Fox P.L.L.C, 1100 New York Avenue, NW, Washington, District of Columbia 20005 (US). (81) Designated States (unless otherwise indicated, for every kind of national available): AE, AG, AL, AM, protection AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DJ, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IR, IS, JP, KE, KG, KH, KN, KP, KR, KW, KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, 1-1 PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, C:r 71- (54) Title: POLYNUCLEOTIDES ENCODING CITRIN FOR THE TREATMENT OF CITRULLINEMIA TYPE 2 M 1-1 (57) : The invention relates to mRNA therapy for the treatment of Citrullinemia Type 2 (\"CTLN2\"). mRNAs for use in the invention, when administered in vivo, encode human Citrin, isoforms thereof, functional fragments thereof, and fusion proteins ei ---- comprising Citrin. mRNAs of the invention are preferably encapsulated in lipid nanoparticles (LNPs) to effect efficient delivery to cells IN and/or tissues in subjects, when administered thereto. mRNA therapies of the invention increase and/or restore deficient levels of Citrin © expression and/or activity in subjects. mRNA therapies of the invention further decrease levels of biomarkers associated with deficient f'1 Citrin activity in subjects, namely ammonia and/or triglycerides. C