公开(公告)号：WO2018222925A1

公开(公告)日：2018-12-06

申请号：PCT/US2018/035476

申请日：2018-05-31

Applicant: ULTRAGENYX PHARMACEUTICAL INC.

Inventor： TACHIKAWA, Kiyoshi ,  PEREZ-GARCIA, Carlos Gustavo ,  CHIVUKULA, Padmanabh ,  BHASKARAN, Hari Prakash ,  COBAUGH, Christian W. ,  DAUGHERTY, Sean Christopher

IPC: A61K48/00 ,  C07K14/47 ,  C12N15/00

Abstract: This invention provides a range of translatable polynucleotide and oligomer molecules for expressing a human phenylalanine hydroxylase (PAH), or a fragment thereof having PAH activity. The polynucleotide and oligomer molecules are expressible to provide the human PAH or a fragment thereof having PAH activity. The molecules can be used as active agents to express an active polypeptide or protein in cells or subjects. The agents can be used in methods for ameliorating, preventing, delaying onset, or treating a disease or condition associated with phenylketonuria, decreased metabolism of phenylalanine, or increased levels of phenylalanine in a subject.

公开(公告)号：WO2017075540A1

公开(公告)日：2017-05-04

申请号：PCT/US2016/059587

申请日：2016-10-28

Applicant: ULTRAGENYX PHARMACEUTICAL INC.

Inventor： KAKKIS, Emil ,  VELLARD, Michel Claude ,  SWISTOWSKI, Andrzej

IPC: A61K31/7088 ,  A61K38/13 ,  A61P25/28 ,  A61P25/00

CPC classification number: A61K38/488 ,  A61K31/198 ,  A61K31/454 ,  A61K31/475 ,  A61K31/573 ,  A61K31/675 ,  A61K31/69 ,  A61K31/704 ,  A61K35/12 ,  A61K38/05 ,  A61K38/4813 ,  A61K38/4873 ,  A61K38/54 ,  A61K45/06 ,  B82Y5/00 ,  C12N9/485 ,  C12N9/6472 ,  C12N9/6478 ,  C12Y304/16001 ,  C12Y304/22001 ,  C12Y304/23005 ,  A61K2300/00

Abstract: Methods and compositions for the treatment or prevention of amyloidosis are provided. In some embodiments, the methods comprise administering to the subject a therapeutically effective amount of at least one catabolic enzyme or a biologically active fragment thereof. Such methods and compositions may be employed reduce, prevent, degrade and/or eliminate amyloid formation in the lysosome and/or extracellularly.

Abstract translation: 提供了用于治疗或预防淀粉样变性的方法和组合物。 在一些实施方案中，所述方法包括向所述受试者施用治疗有效量的至少一种分解代谢酶或其生物学活性片段。 这些方法和组合物可以用于减少，预防，降解和/或消除溶酶体中和/或细胞外的淀粉样蛋白形成。

公开(公告)号：WO2015069699A1

公开(公告)日：2015-05-14

申请号：PCT/US2014/064028

申请日：2014-11-05

Applicant: ULTRAGENYX PHARMACEUTICAL INC.

Inventor： JUNGLES, Steven ,  CHAN, Yiumo ,  KAKKIS, Emil

IPC: A61K31/155 ,  C07C277/08

CPC classification number: C07C279/22 ,  C07C279/14 ,  C07C279/24 ,  C07D273/08 ,  C07D307/62 ,  C07H13/04 ,  C07H19/167

Abstract: The present invention provides novel creatine analogs useful for treating any creatine deficiency disorders and methods of treating and preventing creatine deficiencies utilizing the present compounds and the pharmaceutical compositions or formulations thereof. Certain embodiments seek to increase the lipophilicty of novel creatine analogs with the goal of improving their bioavailability.

Abstract translation: 本发明提供了可用于治疗任何肌酸缺乏障碍的新型肌酸类似物，以及利用本发明化合物及其药物组合物或制剂治疗和预防肌酸缺乏症的方法。 某些实施方案旨在增加新型肌酸类似物的亲油性，目的是提高其生物利用度。

公开(公告)号：WO2013063149A1

公开(公告)日：2013-05-02

申请号：PCT/US2012/061737

申请日：2012-10-24

Applicant: ULTRAGENYX PHARMACEUTICAL, INC.

Inventor： KAKKIS, Emil ,  JUNGLES, Steven

IPC: C07H7/02 ,  C07H5/04 ,  A61K31/7008

CPC classification number: C07H7/02 ,  C07D493/08 ,  C07H7/027 ,  C07H13/04 ,  C07H13/10

Abstract: The present invention provides sialic acid analogs and their compositions useful for the treatment of sialic acid deficiencies.

Abstract translation: 本发明提供唾液酸类似物及其用于治疗唾液酸缺乏症的组合物。

公开(公告)号：WO2020243002A1

公开(公告)日：2020-12-03

申请号：PCT/US2020/034377

申请日：2020-05-22

Applicant: ULTRAGENYX PHARMACEUTICAL INC.

Inventor： DAUGHERTY, Sean Christopher ,  WONG, Timothy Preston ,  CARSON, Rosaline Do ,  CATALDO, Jason Robert

IPC: A61K48/00 ,  C12N15/90 ,  C12N5/071 ,  C12N15/10

Abstract: This application provides polynucleotides comprising a coding sequence for a functionally active hereditary hemochromatosis protein (HFE) or a functionally active fragment thereof. The invention further provides compositions comprising said polynucleotides and their use in methods of preventing or treating hemochromatosis in a subject.

公开(公告)号：WO2020072451A1

公开(公告)日：2020-04-09

申请号：PCT/US2019/054003

申请日：2019-10-01

Applicant: ULTRAGENYX PHARMACEUTICAL INC.

Inventor： FULLER, Matthew ,  WADSWORTH, Samuel ,  CLARK, Kelly, Reed ,  DAUGHERTY, Sean ,  CRAIG, Stewart

IPC: C12Q1/68 ,  C12N15/861 ,  C12N15/09 ,  C12N15/11 ,  A01K2217/072 ,  A01K2227/105 ,  A61K48/005 ,  C12N15/86 ,  C12N2750/14143 ,  C12N2800/22 ,  C12N9/93 ,  C12Q1/6883 ,  C12Y604/01003

Abstract: This present disclosure provides adeno-associated viral vectors, recombinant adeno- associated virus (rAAV), and methods of their use in gene therapy for treating propionic acidemia (PA). Also provided are pharmaceutical compositions comprising a recombinant adeno-associated virus of the invention and a pharmaceutically acceptable carrier or excipient. These pharmaceutical compositions may be useful in gene therapy for the treatment of PA caused by mutations in propionyl-CoA carboxylase α-subunit (PCCA) or mutations in propionyl-CoA carboxylase β-subunit (PCCB).

公开(公告)号：WO2017075540A9

公开(公告)日：2017-07-06

申请号：PCT/US2016059587

申请日：2016-10-28

Applicant: ULTRAGENYX PHARMACEUTICAL INC

Inventor： KAKKIS EMIL ,  VELLARD MICHEL CLAUDE ,  SWISTOWSKI ANDRZEJ

IPC: A61K31/7088 ,  A61K38/43 ,  A61P25/00 ,  A61P25/28

CPC classification number: A61K38/488 ,  A61K35/12 ,  A61K38/05 ,  A61K38/4813 ,  A61K38/4873 ,  A61K38/54 ,  A61K45/06 ,  B82Y5/00 ,  C12N9/485 ,  C12N9/6472 ,  C12N9/6478 ,  C12Y304/16001 ,  C12Y304/22001 ,  C12Y304/23005 ,  A61K2300/00

Abstract: Methods and compositions for the treatment or prevention of amyloidosis are provided. In some embodiments, the methods comprise administering to the subject a therapeutically effective amount of at least one catabolic enzyme or a biologically active fragment thereof. Such methods and compositions may be employed reduce, prevent, degrade and/or eliminate amyloid formation in the lysosome and/or extracellularly.

Abstract translation: 提供了用于治疗或预防淀粉样变性的方法和组合物。 在一些实施方案中，所述方法包括向所述受试者施用治疗有效量的至少一种分解代谢酶或其生物学活性片段。 这些方法和组合物可以用于减少，预防，降解和/或消除溶酶体中和/或细胞外的淀粉样蛋白形成。

公开(公告)号：WO2012009474A1

公开(公告)日：2012-01-19

申请号：PCT/US2011/043910

申请日：2011-07-13

Applicant: ULTRAGENYX PHARMACEUTICAL INC. ,  KAKKIS, Emil

Inventor： KAKKIS, Emil

IPC: A61K31/7012 ,  A61K47/38 ,  A61K9/22 ,  A61P21/00

CPC classification number: A61K31/7012 ,  A61K9/0002 ,  A61K9/0053 ,  A61K9/20 ,  A61K9/2004 ,  A61K9/2009 ,  A61K9/2013 ,  A61K9/2031 ,  A61K9/205 ,  A61K9/2054 ,  A61K9/2063 ,  A61K9/48 ,  A61K9/485 ,  A61K9/4858 ,  A61K9/4866 ,  A61K31/335 ,  A61K31/35

Abstract: The present invention relates to compositions and methods for treating sialic acid deficiencies comprising extended release formulations.

Abstract translation: 本发明涉及用于治疗唾液酸缺乏的组合物和方法，其包括延长释放制剂。

公开(公告)号：WO2023019168A1

公开(公告)日：2023-02-16

申请号：PCT/US2022/074760

申请日：2022-08-10

Applicant: ULTRAGENYX PHARMACEUTICAL INC.

Inventor： FULLER, Matthew Scott ,  STOICA, Lorelei Ioana ,  TIERNAN, Aubrey Rose ,  CLARK, Kelly Reed ,  WADSWORTH, Samuel

IPC: A61K35/76 ,  C07K14/47 ,  C12N15/864 ,  C12N15/67

Abstract: The present disclosure provides novel synthetic nucleic acids and recombinant adeno-associated virus (rAAV) comprising the same, as well as methods of their use in the treatment of muscular dystrophies associated with a dystrophin mutation. Also provided are pharmaceutical compositions comprising a novel synthetic nucleic acid or rAAV of the invention, and a pharmaceutically acceptable carrier or excipient. Pharmaceutical compositions comprising an rAAV of the invention may be useful in gene therapy for the treatment of dystrophin-associated muscular dystrophies, such as Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and X-linked cardiomyopathy.

公开(公告)号：WO2021163322A1

公开(公告)日：2021-08-19

申请号：PCT/US2021/017656

申请日：2021-02-11

Applicant: ULTRAGENYX PHARMACEUTICAL INC.

Inventor： FYFFE-MARICICH, Sharyl, Lynne ,  FULLER, Matthew, Scott ,  WRIGHT, Margaret, Caroline ,  STOICA, Lorelei, Ioana ,  CRAIG, Stewart ,  DAUGHERTY, Sean, Christopher

IPC: C12N15/86 ,  A61K38/17 ,  A61K48/00

Abstract: This present disclosure provides adeno-associated viral vectors, recombinant adeno-associated virus (rAAV), and methods of their use in gene therapy for treating CDKL5 deficiency disorder (CDD). Also provided are pharmaceutical compositions comprising an rAAV of the invention and a pharmaceutically acceptable carrier or excipient. These pharmaceutical compositions may be useful in gene therapy for the treatment of CDD caused by mutations in CDKL.