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1. (WO2017099838) GENE THERAPY FOR COMBINED METHYLMALONIC ACIDEMIA/ACIDURIA AND HYPERHOMOCYSTEINEMIA/HOMOCYSTINURIA, COBALAMIN C TYPE, AND DEFICIENCY OF MMACHC
Latest bibliographic data on file with the International Bureau

Pub. No.: WO/2017/099838 International Application No.: PCT/US2016/029512
Publication Date: 15.06.2017 International Filing Date: 27.04.2016
IPC:
G01N 33/50 (2006.01) ,C07K 14/435 (2006.01) ,C12N 15/67 (2006.01)
G PHYSICS
01
MEASURING; TESTING
N
INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
33
Investigating or analysing materials by specific methods not covered by groups G01N1/-G01N31/131
48
Biological material, e.g. blood, urine; Haemocytometers
50
Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
C CHEMISTRY; METALLURGY
07
ORGANIC CHEMISTRY
K
PEPTIDES
14
Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
435
from animals; from humans
C CHEMISTRY; METALLURGY
12
BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
N
MICRO-ORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICRO-ORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
15
Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
09
Recombinant DNA-technology
63
Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
67
General methods for enhancing the expression
Applicants:
THE UNITED STATES OF AMERICA, AS REPRESENTED BY THE SECRETARY, DEPARTMENT OF HEALTH AND HUMAN SERVICES [US/US]; Office of Technology Transfer National Institutes of Health 6011 Executive Boulevard, Suite 325, MSC 7660 Bethesda, MD 20892-7660, US
Inventors:
VENDITTI, Charles, P.; US
SLOAN, Jennifer, L.; US
Agent:
SPENNER, Jonathan, M.; US
Priority Data:
62/266,35211.12.2015US
62/279,28515.01.2016US
Title (EN) GENE THERAPY FOR COMBINED METHYLMALONIC ACIDEMIA/ACIDURIA AND HYPERHOMOCYSTEINEMIA/HOMOCYSTINURIA, COBALAMIN C TYPE, AND DEFICIENCY OF MMACHC
(FR) THÉRAPIE GÉNIQUE POUR ACIDÉMIE/ACIDURIE ET HYPERHOMOCYSTÉINÉMIE/HOMOCYSTINURIE MÉTHYLMALONIQUE, COBALAMINE DE TYPE C, ET DÉFICIENCE EN PROTÉINE DE TYPE C D'ACIDURIE ET D'HOMOCYSTINURIE MÉTHYLMALONIQUE (MMACHC)
Abstract:
(EN) The present invention provides a synthetic MMACHC polynucleotide comprising a polynucleotide encoding MMACHC that is codon-optimized for expression in a human. Also provided is a polypeptide encoded by a synthetic MMACHC polynucleotide, an expression vector comprising a MMACHC gene sequence under the control of a chicken beta actin (CBA) promoter, and an expression vector comprising a synthetic MMACHC polynucleotide. Methods of treating cobalamin C deficiency and for detecting or tracking exogenous MMACHC are also provided.
(FR) La présente invention concerne un polynucléotide de MMACHC (protéine de type C d'acidurie et d'homocystinurie méthylmalonique) synthétique comprenant un polynucléotide codant la MMACHC qui est optimisée par un codon pour une expression chez un humain. L'invention concerne également un polypeptide codé par un polynucléotide MMACHC synthétique, un vecteur d'expression comprenant une séquence génique de MMACHC sous la commande d'un promoteur de l'actine bêta du poulet (CBA), et un vecteur d'expression comprenant un polynucléotide de MMACHC synthétique. Des procédés de traitement d'une déficience en cobalamine C et de détection ou de suivi de MMACHC exogène sont également décrits.
Designated States: 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, 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, KN, KP, KR, 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
African Regional Intellectual Property Organization (ARIPO) (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Organization (AM, AZ, BY, KG, KZ, RU, TJ, TM)
European Patent Office (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)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG)
Publication Language: English (EN)
Filing Language: English (EN)
Also published as:
EP3387434US20180353623