COMPOSITIONS AND METHODS FOR THE TREATMENT OF HEMOGLOBINOPATHIES

• Main Authors: STEVENSON, Susan C, SNEAD, Jennifer, YANG, Yi, SCHMEDT, Christian, MICKANIN, Craig Stephen
• Format: Patent
• Language: English
• Published: 27.08.2019
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS THEREOF; CULTURE MEDIA; ENZYMOLOGY; HUMAN NECESSITIES; HYGIENE; MEDICAL OR VETERINARY SCIENCE; METALLURGY; MICROBIOLOGY; MICROORGANISMS OR ENZYMES; MUTATION OR GENETIC ENGINEERING; PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS; SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS ORMEDICINAL PREPARATIONS; SPIRITS; VINEGAR; WINE

HIn Day re& e. a%. f-L:L. rk ri . &t: 88888888888888?,8888888888fM888888868888888&888888888888888886&8686888888 (12) INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (43) International Publication Date 09 August 2018 (09.08.2018) WIP0 I PCT omit IIl °nolo oimIE (10) International Publication Number WO 2018/142364 Al (51) International Patent Classification: C12N 15/113 (2010.01) A61P 7/00 (2006.01) A61K 31/713 (2006.01) (21) International Application Number: PCT/IB2018/050712 (22) International Filing Date: 05 February 2018 (05.02.2018) (25) Filing Language: English (26) Publication Language: English (30) Priority Data: 62/455,464 06 February 2017 (06.02.2017) US (71) Applicants: NOVARTIS AG [CH/CH]; Lichtstrasse 35, 4056 Basel (CH). INTELLIA THERAPEUTICS, INC. [US/US]; 40 Erie Street, Suite 130, Cambridge, MA 02139 (US). (72) Inventors: MICKANIN, Craig Stephen; c/o Novartis In- stitutes for BioMedical Research, Inc., 250 Massachusetts Avenue, Cambridge, MA 02139 (US). SCHMEDT, Chris- tian; c/o Novartis Institute For Functional Genomics, Inc., Dba The Genomics Institute of the Novartis Research Foun- dation (GNF), 10675 John Jay Hopkins Drive, San Diego, CA 92121 (US). SNEAD, Jennifer; c/o Novartis Institute For Functional Genomics, Inc., Dba The Genomics Insti- tute of the Novartis Research Foundation (GNF), 10675 John Jay Hopkins Drive, San Diego, CA 92121 (US). STEVENSON, Susan C.; c/o Novartis Institutes for Bio- Medical Research, Inc., 250 Massachusetts Avenue, Cam- bridge, MA 02139 (US). YANG, Yi; c/o Novartis Institutes for BioMedical Research, Inc., 250 Massachusetts Avenue, Cambridge, MA 02139 (US). (74) Agent: NOVARTIS AG; Lichtstrasse 35, 4056 Basel (CH). (81) Designated States (unless otherwise indicated, for every kind of national protection available): AE, AG, AL, AM, 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, JO, 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, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW. (54) Title: COMPOSITIONS AND METHODS FOR THE TREATMENT OF HEMOGLOBINOPATHIES Figure 1 HOF irlithicilott . ,cmock % Hbf , indudtipt) ›17% and.% inde€ and >1.774 (fOr11131, : HR.W.Pir bath) ' , 70 HbF induction >17% with % indei -17% % HbF <17% with % ndel % 17% , coritti* 00 O (57) : The present invention is directed to genome editing systems, reagents and methods for the treatment of hemoglo- binopathies. C [Continued on next page] WO 2018/142364 Al MIDEDIMOMOIDEIREEMOMMIEMIMINHINVOIS (84) Designated States (unless otherwise indicated, for every kind of regional protection available): ARIPO (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, UG, ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, RU, TJ, 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, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, TR), OAPI (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG). Declarations under Rule 4.17: as to applicant's entitlement to apply for and be granted a patent (Rule 4.17(ii)) Published: with international search report (Art. 21(3)) before the expiration of the time limit for amending the claims and to be republished in the event of receipt of amendments (Rule 48.2(h)) with sequence listing part of description (Rule 5.2(a))