公开(公告)号：WO2023060233A1

公开(公告)日：2023-04-13

申请号：PCT/US2022/077760

申请日：2022-10-07

Applicant: AMICUS THERAPEUTICS, INC. ,  SANFORD HEALTH

Inventor： BRUDVIG, Jon ,  WEINER, Jill ,  JOHNSON, Tyler ,  CAIN, Jacob ,  TIMM, Derek

IPC: G01N33/68 ,  A61K48/00 ,  G01N33/92 ,  A01K2217/075 ,  A01K2227/105 ,  A01K2227/108 ,  A01K2267/03 ,  C07K14/47 ,  C12N9/00 ,  G01N2570/00 ,  G01N2800/04 ,  G01N2800/38 ,  G01N33/6893

Abstract: Methods of determining a disease score of a patient diagnosed with lysosomal storage disease (LSD) are described. The disease score includes one or more of the following: (i) one or more biofluid biomarkers; (ii) one or more neurophysiological measurements; and (iii) one or more neurobehavior measurement. Also described method of treating LSD including determining the disease score and administering to the patient a therapy. The therapy includes one or more of the following: (i) enzyme replacement therapy, (ii) gene therapy; and (iii) a small molecule.

公开(公告)号：WO2022015810A2

公开(公告)日：2022-01-20

申请号：PCT/US2021/041565

申请日：2021-07-14

Applicant: CASMA THERAPEUTICS, INC. ,  WASHINGTON UNIVERSITY

Inventor： ANNAND, John William ,  BERGMAN, Philip Alan ,  BLAZIER, Anna S. ,  SIDHU, Rohini ,  JIANG, Xuntian ,  MARSH, JR., Timothy John ,  ORY, Daniel Scott

IPC: G01N33/50 ,  C12Q1/68 ,  C12Q1/6883 ,  C12Q2600/178 ,  G01N2800/04

Abstract: The present disclosure pertains to biomarkers of TRPML1 modulation and methods and kits using the same.

公开(公告)号：WO2022072706A1

公开(公告)日：2022-04-07

申请号：PCT/US2021/052982

申请日：2021-09-30

Applicant: SANGAMO THERAPEUTICS, INC.

Inventor： HOLTER, Joshua Nelson

IPC: A61P5/00 ,  A61K38/47 ,  A61K31/439 ,  A61K31/445 ,  A61K31/517 ,  A61K38/1709 ,  A61K45/06 ,  A61K48/005 ,  C12Y302/01022 ,  G01N2333/94 ,  G01N2800/04 ,  G01N2800/52 ,  G01N33/6854

Abstract: The disclosure provides the enzyme and non-enzyme replacement therapies for treating Fabry disease in a human subject, determined based on measuring the presence or absence of an anti-α-Galactosidase A (GLA) neutralizing antibody in a biological sample of the subject, as measured by an anti-GLA neutralizing antibody assay.

公开(公告)号：WO2021138273A2

公开(公告)日：2021-07-08

申请号：PCT/US2020/067190

申请日：2020-12-28

Applicant: CHAN ZUCKERBERG BIOHUB, INC. ,  THE REGENTS OF THE UNIVERSITY OF CALIFORNIA ,  MANDEL-BREHM, Caleigh

Inventor： VAZQUEZ, Sara ,  ANDERSON, Mark S. ,  DERISI, Joseph L.

IPC: G01N33/53 ,  A61K38/45 ,  C07K16/40 ,  A61P37/06 ,  G01N2800/04 ,  G01N2800/06 ,  G01N2800/18 ,  G01N2800/36 ,  G01N2800/50 ,  G01N33/564 ,  G01N33/6893

Abstract: This disclosure describes methods and compositions for detecting the presence of autoantibodies associated with autoimmune polyglandualar syndrome 1 (APS1) in a biological sample. In particular, detection of APS1-specific autoantbodies that specifically bind to certain APS1 associated autoantigens in such methods is described. Also provided are methods of treating subjects with APS1 or at risk of developing APS1 associated conditions. Also provided are devices and kits useful for the diagnosis and prognostic assessment of subjects having APS1 and for assessing subject risk at developing particular APS1-associated conditions.