公开(公告)号：US11298347B2

公开(公告)日：2022-04-12

申请号：US16809045

申请日：2020-03-04

申请人： THE CHILDREN'S HOSPITAL OF PHILADELPHIA

发明人： Hakon Hakonarson ,  Charlly Kao

IPC分类号： A61K31/454 ,  A61K45/06 ,  C12Q1/6883

摘要： Methods and uses for diagnosing and treating Tourette syndrome are encompassed, wherein diagnosis and treatment may be based upon an assessment of genetic alterations in metabotropic glutamate receptor (mGluR) network genes and wherein treatment is with nonspecific activators of mGluRs such as fasoracetam.

公开(公告)号：US11279950B2

公开(公告)日：2022-03-22

申请号：US15887641

申请日：2018-02-02

申请人： The Children's Hospital of Philadelphia

发明人： Mustafa N. Yazicioglu ,  Federico Mingozzi ,  Xavier Anguela ,  Katherine A. High

IPC分类号： C12N15/86 ,  C07K14/005 ,  A61K48/00

摘要： Compositions and methods for AAV mediated gene therapy are disclosed. AAV vectors comprise protein capsid variants comprising therapeutically beneficial transgenes. AAV variants are provided which exhibit increased transduction efficiency when compared to AAV serotypes (e.g., AAV1, AAV2, AAV8, AAV-rh74), which lack the modifications disclosed herein. Such improved vectors are useful for transduction of a variety of tissues.

公开(公告)号：US20220056529A1

公开(公告)日：2022-02-24

申请号：US17466648

申请日：2021-09-03

申请人： THE CHILDREN'S HOSPITAL OF PHILADELPHIA

发明人： Hakon Hakonarson ,  Jonathan Bradfield ,  Marcin Imielinski ,  Struan F.A. Grant

IPC分类号： C12Q1/6883

摘要： Compositions and methods for the detection and treatment of inflammatory bowel disease are provided.

公开(公告)号：US20220033475A1

公开(公告)日：2022-02-03

申请号：US17279961

申请日：2019-10-23

申请人： THE CHILDREN'S HOSPITAL OF PHILADELPHIA

发明人： Valder R. Arruda ,  Benjamin Samelson-Jones

IPC分类号： C07K14/755

摘要： Factor VIII variants and methods of use thereof are disclosed.

公开(公告)号：US20210389329A1

公开(公告)日：2021-12-16

申请号：US17289499

申请日：2019-10-29

申请人： THOMAS JEFFERSON UNIVERSITY ,  THE CHILDREN'S HOSPITAL OF PHILADELPHIA

发明人： Danielle FORTUNA ,  Mark Thomas CURTIS ,  Douglas Craig HOOPER ,  Timothy Chao ,  Ana María CÁRDENAS CAICEDO

IPC分类号： G01N33/68 ,  G01N33/574 ,  C12Q1/6883 ,  C12Q1/6886 ,  C12Q1/6888

摘要： The present invention provides compositions and methods for discriminating infectious from non-infectious CNS disorders, and providing appropriate treatment thereof.

公开(公告)号：US11185446B2

公开(公告)日：2021-11-30

申请号：US14758877

申请日：2014-01-02

申请人： The Children's Hospital of Philadelphia

发明人： Scott P Bartlett

IPC分类号： A61F11/14 ,  A61F11/08 ,  A61F11/00 ,  A61F5/01

摘要： An auricular support system can include a substrate and a mold material. The substrate can include a substrate body having a first end and an opposed second end. At least a portion of the first end can be configured to carry an adhesive suitable to attach to a dermal surface. The second end defines at least one void. The mold material can be configured to be applied to both an auricular structure and the second end of the substrate body such that the mold material becomes disposed in the void and molds about the auricular structure. The mold material can be configured to cure after the mold material is applied to the auricular structure and the substrate body so as to support the auricular structure relative to the substrate. The auricular support system can further include an auxiliary support structure configured to attach to the auricular structure.

公开(公告)号：US20210330763A1

公开(公告)日：2021-10-28

申请号：US17305649

申请日：2021-07-12

申请人： The Children's Hospital of Philadelphia

发明人： Katherine A. HIGH ,  Xavier ANGUELA

IPC分类号： A61K38/48 ,  C12N9/64 ,  C12N15/86

摘要： The invention relates to modified Factor IX coding sequence, expression cassette, vectors such as viral (e.g., lenti- or adeno-associated viral) vectors, and gene transfer methods and uses. In particular, to target Factor IX nucleic acid to cells, tissues or organs for expression (transcription) of Factor IX.

公开(公告)号：US20210324354A1

公开(公告)日：2021-10-21

申请号：US16611458

申请日：2018-05-11

申请人： The Children's Hospital of Philadelphia

发明人： Beverly L. DAVIDSON ,  Yonghong CHEN

IPC分类号： C12N9/14 ,  A61K45/06 ,  C12N7/00 ,  A61K48/00 ,  A61P25/00 ,  C12N15/86

摘要： The invention relates to sulfamidase (SGSH) and SGSH variants. SGSH and SGSH variants can be delivered by way of a recombinant adeno-associated virus (rAAV) particle to a mammal's central nervous system (CNS) to transduce CNS cells that contact cerebrospinal fluid (CSF). Target mammals for SGSH and SGSH variant administration include mammals with a deficiency or defect in SGSH expression or function.

公开(公告)号：US11111539B2

公开(公告)日：2021-09-07

申请号：US15899811

申请日：2018-02-20

申请人： The Children's Hospital of Philadelphia

发明人： Hakon Hakonarson ,  Jonathan Bradfield ,  Marcin Imielinski ,  Struan F. A. Grant

IPC分类号： C12Q1/68 ,  C12P19/34 ,  C12Q1/6883

摘要： Compositions and methods for the detection and treatment of inflammatory bowel disease are provided.

公开(公告)号：US20210252106A1

公开(公告)日：2021-08-19

申请号：US17049050

申请日：2019-04-30

申请人： The Children's Hospital of Philadelphia

发明人： Stefano RIVELLA ,  Carla CASU

IPC分类号： A61K38/18 ,  A61K35/33 ,  A61K38/17 ,  C12N15/113 ,  A61P7/06

摘要： The present invention provides methods, agents, compounds, and compositions useful for administering to subjects having or at risk of having anemias. In certain embodiments, methods herein comprise administering two agents to a subject, which are useful for the treatment of an anemia.