公开(公告)号：US20180073000A1

公开(公告)日：2018-03-15

申请号：US15411797

申请日：2017-01-20

申请人： Saint Louis University, a non-profit organization Saint Louis University

发明人： Adriana Montaño-Suarez ,  Angela Sosa-Molano

IPC分类号： C12N9/16

CPC分类号： C12N9/16 ,  A61K38/00 ,  C12Y301/06004

摘要： Disclosed are methods and compositions for reduced immunogenic proteins used in enzyme replacement therapy for lysosomal storage disorders. More specifically disclosed are genetically engineered variants of N-acetylgalactosamine-6-sulfatase (GALNS), which are less immunogenetic then wild-type GALNS, but maintain enzymatic activity, and may be used to treat Mucopolysaccharidosis IVA (Morquio A disease, MPS IVA).

公开(公告)号：US08940513B2

公开(公告)日：2015-01-27

申请号：US14281538

申请日：2014-05-19

申请人： BioMarin Pharmaceutical Inc.

发明人： Vish Koppaka ,  Michel Claude Vellard ,  Augustus Okhamafe ,  Kidisti Araya

IPC分类号： A61K38/46 ,  A61P3/00 ,  C12N9/16 ,  C12N5/04

CPC分类号： C12N9/16 ,  A61K9/08 ,  A61K38/00 ,  A61K38/465 ,  C12Y301/06004

摘要： This invention provides compositions of active highly phosphorylated human N-acetylgalactosamine-6-sulfatase (GALNS), and pharmaceutical compositions and formulations thereof, methods of producing and purifying GALNS, and its use in the diagnosis, prophylaxis, or treatment of diseases and conditions, including particularly lysosomal storage diseases that are caused by, or associated with, a deficiency in the GALNS enzyme, e.g., Mucopolysaccharidosis IVa (MPS IVa or Morquio A syndrome).

摘要翻译： 本发明提供活性高度磷酸化的人N-乙酰半乳糖胺-6-硫酸酯酶（GALNS）的组合物及其药物组合物及其制剂，制备和纯化GALNS的方法及其在疾病和病症的诊断，预防或治疗中的用途， 包括特别是由GALNS酶的缺陷引起或与之相关的溶酶体贮积病，例如粘多糖贮积症IVa（MPS IVa或Morquio A综合征）。

公开(公告)号：US20120189605A1

公开(公告)日：2012-07-26

申请号：US13188907

申请日：2011-07-22

申请人： Vish Koppaka ,  Michel C. Vellard ,  Augustus O. Okhamafe ,  Kidisti Araya

发明人： Vish Koppaka ,  Michel C. Vellard ,  Augustus O. Okhamafe ,  Kidisti Araya

IPC分类号： A61K38/46 ,  A61P3/00 ,  C12N9/16

CPC分类号： C12N9/16 ,  A61K9/08 ,  A61K38/00 ,  A61K38/465 ,  C12Y301/06004

摘要： This invention provides compositions of active highly phosphorylated human N-acetylgalactosamine-6-sulfatase (GALNS), and pharmaceutical compositions and formulations thereof, methods of producing and purifying GALNS, and its use in the diagnosis, prophylaxis, or treatment of diseases and conditions, including particularly lysosomal storage diseases that are caused by, or associated with, a deficiency in the GALNS enzyme, e.g., Mucopolysaccharidosis IVa (MPS IVa or Morquio A syndrome).

摘要翻译： 本发明提供活性高度磷酸化的人N-乙酰半乳糖胺-6-硫酸酯酶（GALNS）的组合物及其药物组合物及其制剂，制备和纯化GALNS的方法及其在疾病和病症的诊断，预防或治疗中的用途， 包括特别是由GALNS酶的缺陷引起或与之相关的溶酶体贮积病，例如粘多糖贮积症IVa（MPS IVa或Morquio A综合征）。