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：WO2021251824A1

公开(公告)日：2021-12-16

申请号：PCT/NL2021/050367

申请日：2021-06-09

Applicant: STICHTING EUROFLOW ,  LEIDS UNIVERSITAIR MEDISCH CENTRUM ,  UNIVERSITY OF SALAMANCA

Inventor： DE SA FERREIRA FACIO, Cristiane ,  DESSANTI BOTAFOGO GONÇALVES, Vitor ,  SOBRAL DA COSTA, Elaine ,  VAN DONGEN, Jacobus Johannes Maria ,  ORFAO DE MATOS CORREIA E VALE, José Alberto

IPC: G01N33/574 ,  G01N2333/705 ,  G01N2800/38 ,  G01N33/57407

Abstract: The invention relates to the field of medical diagnostics, in particular to methods and reagents for the detection and monitoring of pediatric tumors by multiparameter flow cytometry (MFC) using a single tube. Provided is a kit-of-parts for the flow cytometric detection of pediatric tumor cells, the kit comprising fluorochrome-conjugated antibodies directed against the cell surface markers CD45, CD56, GD2, CD99, CD8, EpCAM, CD4, smCD3, CD19 and CD271, the cytoplasmic marker cyCD3, and the nuclear marker(s) nuMyogenin and/or nuMyoD1, wherein (i) the antibodies against the markers CD99/CD8 are conjugated to the same fluorochrome and representing a first marker pair CD99/CD8; (ii) the antibodies against the markers EpCAM/CD4 are conjugated to the same fluorochrome and representing a second marker pair EpCAM/CD4; (ii) the antibody against CD271 is conjugated to the same fluorochrome as the antibody against either cyCD3 or smCD3 and representing a third marker pair CD271/cyCD3 or CD271/smCD3; wherein between the first, second and third marker pairs the fluorochromes are distinguishable; and wherein the antibodies against the cytoplasmic and the nuclear markers are physically separated from the antibodies against the cell surface markers.

公开(公告)号：WO2021202807A1

公开(公告)日：2021-10-07

申请号：PCT/US2021/025270

申请日：2021-03-31

Applicant: SEATTLE CHILDREN'S HOSPITAL D/B/A SEATTLE CHILDREN'S RESEARCH INSTITUTE

Inventor： HAHN, Sihoun ,  COLLINS, Christopher ,  DAYUHA, Remwilyn ,  YI, Fan

IPC: C07K16/40 ,  C12N9/24 ,  G01N33/68 ,  G01N2800/38 ,  G01N33/6848 ,  G01N33/6854

Abstract: Early detection of lysosomal storage diseases (LSDs) including Mucopolysaccharidosis Type I (MPS I) and Pompe Disease can greatly improve patient outcome as each disease can be fatal once symptoms emerge. Screening for MPS I and Pompe Disease using biological samples including dried blood spots (DBS), buccal swab, peripheral blood mononuclear cells (PBMCs), or white blood cells (WBCs) is described. The disclosed methods and assays provide a robust way to screen newborns for LSDs. The disclosed methods and assays can also allow rapid prediction of whether a patient with LSD will develop an immune response to enzyme replacement therapy (ERT), thus improving treatment for patients with LSDs. The disclosed methods and assays can also further reduce the number of false positives caused by pseudo deficiency cases of LSD, such as MPS I and Pompe Disease.