Patent CA-3079107-A1 (CA)
Title: Vectors for the treatment of friedreich's ataxia
Inventor: MATILLA DUENAS ANTONI
IPC: C12N15/86
Filed: 2018-10-17
Abstract: (12) INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY  (PCT) (19) World Intellectual Property Organization International Bureau                                (10) International Publication Number (43) International Publication Date    .+.0"")        WO 2019/076973 Al 25 April 2019 (25.04.2019)    WIPO I PCT (51) International Patent Classification:             (84) Designated States (unless otherwise indicated, for every C12N 15/86 (2006.01) kind of regional protection available): ARIPO (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, (21) International Application Number: UG, ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, RU, TJ, TM), European (AL, AT, BE, BG, CH, CY, CZ, DE, DK, (22) International Filing Date:                                                     EE, ES, FI, FR, GB, GR, HR, HU, EE, IS, IT, LT, LU, LV, 1'7 October 2018 (1'7.10.2018)           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, (25) Filing Language:                     English KM, ML, MR, NE, SN, TD, TG). (26) Publication Language:                English Published: (30) Priority Data: ¨    with international search report (Art. 21(3)) 1'7382691.8          October 201'7 (1'7.10.201'7)    EP ¨    with sequence listing part of description (Rule 5.2(a)) (71) Applicants:             FUNDACIO     INSTITUT D'INVESTIGACIO EN CIENCIES DE LA SALUT GERMANS TRIAS I PUJOL [ES/ES]; Canetera de Can Ruti, Cami de les Escoles s/n, 08916 Badalona (ES). GEN-TEC, S.A. [ES/ES]; Calle Tarragona, número 161, Planta 18 , 08014 Barcelona (ES). (72) Inventors: MATILLA DUENAS, Antoni; FUNDACIO  INSTITUT D'INVESTIGACIO EN CEENCEES DE LA  SALUT GERMANS TRIAS I PUJOL, Carretera de Can Ruti, Cami de les Escoles s/n, 08916 BADALONA  (ES). SANCHEZ DiAZ, Ivelisse; FUNDACIO  TUT D'INVESTIGACIO EN CIENCEES DE LA SA-LUT GERMANS TRIAS I PUJOL, Carretera de Can Ru-ti, Cami de les Escoles s/n, 08916 BADALONA (ES).  BALAGUE CABASES, Eudald; FUNDACIO INSTITUT  DINVESTIGACIO EN CIENCIES DE LA SALUT GER-. MANS TRIAS I PUJOL, Carretera de Can Ruti, Cami de les Escoles s/n, 08916 BADALONA (ES). -    (74) Agent: HOFFMANN EITLE, S.L.U.; Paseo de la Castel-.    lana 140, Planta 3'. Edificio Lima, 28046 Madrid (ES). -    (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. re) __________________________________________________________________________ h (54) Title: VECTORS FOR THE TREATMENT OF FRIEDREICH'S ATAXIA (57) Abstract: The present invention provides gene therapies for the treatment of Friedreich's ataxia. Specifically, the present invention h provides a nucleic acid, cloning vector and transfer vector for the production of an adeno-associated virus (AAV) vector. The nucleic acid comprises (i) a nucleic acid sequence encoding frataxin, (ii) a phospho-glycerate-kinase (PGK) promoter, and (iii) a woodchuck hepatitis virus posttranscriptional regulatory element (WPRE). The present invention also provides a pharmaceutical composition which comprises the AAV vector or nucleic acid. Also, the AAV vector, nucleic acid or pharmaceutical composition can be used as a medica-ment, specifically as a medicament for the treatment of Friedreich's ataxia.