公开(公告)号：US20210008227A1

公开(公告)日：2021-01-14

申请号：US16910834

申请日：2020-06-24

Applicant: Genzyme Corporation

Inventor： James DODGE ,  Lamya S. SHIHABUDDIN ,  Marco A. PASSINI ,  Seng H. CHENG ,  Catherine O'RIORDAN

IPC: A61K48/00 ,  C12N15/864 ,  C07K14/475

Abstract: This disclosure provides methods and compositions for treating disorders or injuries that affect motor function and control in a subject. In one aspect, the invention provides a method to deliver a transgene to a subject's spinal cord by administering a recombinant neurotropic viral vector containing the transgene. The viral vector delivers the transgene to a region of the deep cerebellar nuclei region of the brain. Also provided are compositions and methods to deliver a transgene to a subject's spinal cord by administering a recombinant neurotropic viral vector containing the transgene to the motor cortex region of the subject's brain.

公开(公告)号：US20160074474A1

公开(公告)日：2016-03-17

申请号：US14888385

申请日：2013-05-01

Applicant: Genzyme Corporation

Inventor： Marco A. PASSINI ,  Lamya S. SHIHABUDDIN ,  Catherine R. O'RIORDAN ,  Seng H. CHENG

IPC: A61K38/17 ,  A61K48/00 ,  A61K9/00

Abstract: The present provides methods for treating spinal muscular atrophy using a self-complementary recombinant adeno-associated virus (rAAV) viral particle comprising a transgene expressing SMN. In one aspect, the viral particles are administered the spinal column or cisterna magna in a human subject; for example, a pediatric human subject. Viral particles comprising AAV9 capsids are contemplated.

Abstract translation: 本发明提供使用包含表达SMN的转基因的自身互补重组腺相关病毒（rAAV）病毒颗粒治疗脊髓性肌肉萎缩的方法。 在一个方面，病毒颗粒在人类受试者中施用脊柱或大叶黄水母; 例如，儿科人类受试者。 考虑包含AAV9衣壳的病毒颗粒。

公开(公告)号：US20170087212A1

公开(公告)日：2017-03-30

申请号：US15160949

申请日：2016-05-20

Applicant: Genzyme Corporation

Inventor： Marco A. PASSINI ,  Lamya SHIHABUDDIN ,  Seng H. CHENG

IPC: A61K38/17 ,  C12N7/00 ,  A61K48/00 ,  C07K14/47

CPC classification number: A61K38/1709 ,  A61K31/7088 ,  A61K48/00 ,  A61K48/0008 ,  A61K48/005 ,  A61K48/0075 ,  C07K14/4702 ,  C12N7/00 ,  C12N15/86 ,  C12N2750/14121 ,  C12N2750/14133 ,  C12N2750/14143 ,  C12N2750/14171

Abstract: Compositions and methods for treating disorders affecting motor function, such as motor function affected by disease or injury to the brain and/or spinal cord, are disclosed.

公开(公告)号：US20230287366A1

公开(公告)日：2023-09-14

申请号：US18119201

申请日：2023-03-08

Applicant: Genzyme Corporation

Inventor： Marco A. PASSINI ,  Robin J. ZIEGLER ,  James C. DODGE ,  Lamya SHIHABUDDIN ,  Seng H. CHENG

IPC: C12N9/16 ,  C12N15/85 ,  A61K48/00 ,  C12N15/86

CPC classification number: C12N9/16 ,  C12N15/8509 ,  A61K48/0083 ,  C12N15/86 ,  C12N2840/007 ,  C12N2750/14143 ,  A01K2207/00 ,  A01K2227/105 ,  G01N2500/00 ,  A01K2267/0306

Abstract: This disclosure pertains to methods and compositions for tolerizing a mammal's brain to exogenously administered acid sphingomyelinase polypeptide by first delivering an effective amount of a transgene encoding the polypeptide to the mammal's hepatic tissue and then administering an effective amount of the transgene to the mammal's central nervous system (CNS).

公开(公告)号：US20220370348A1

公开(公告)日：2022-11-24

申请号：US17572330

申请日：2022-01-10

Applicant: Genzyme Corporation

Inventor： James C. DODGE ,  Marco A. PASSINI ,  Lamya S. SHIHABUDDIN ,  Seng H. CHENG

IPC: A61K9/00 ,  A61P3/00 ,  C12N15/86 ,  C12N9/16

Abstract: Neurological diseases, including lysosomal storage diseases, can be successfully treated using intraventricular delivery of the therapeutic agents to bypass the blood-brain barrier. Similarly, diagnostic agents and anesthetic agents can be delivered to the brain in this manner. The administration can be performed slowly to achieve maximum effect. Such administration permits greater penetration of distal portions of the brain.

公开(公告)号：US20220073508A1

公开(公告)日：2022-03-10

申请号：US17230385

申请日：2021-04-14

Applicant: Genzyme Corporation

Inventor： Elyse BOURQUE ,  Mario A. CABRERA-SALAZAR ,  Cassandra CELATKA ,  Seng H. CHENG ,  Bradford HIRTH ,  Andrew GOOD ,  Katherine JANCSICS ,  John MARSHALL ,  Markus METZ ,  Ronald K. SCHEULE ,  Renato SKERLJ ,  Yibin XIANG ,  Zhong ZHAO ,  John LEONARD ,  Thomas NATOLI ,  Elina MAKINO ,  Herve HUSSON ,  Oxana BESKROVNAYA

IPC: C07D453/02 ,  C07D471/08 ,  A61K31/439 ,  A61K31/496 ,  A61K31/497 ,  A61K31/506 ,  A61K31/5377 ,  A61K31/55 ,  A61K31/551 ,  A61K45/06

Abstract: The invention relates to inhibitors of glucosylceramide synthase (GCS) useful for the treatment of metabolic diseases, such as lysosomal storage diseases, either alone or in combination with enzyme replacement therapy, cystic disease and for the treatment of cancer.

公开(公告)号：US20160051699A1

公开(公告)日：2016-02-25

申请号：US14876683

申请日：2015-10-06

Applicant: GENZYME CORPORATION

Inventor： Marco A. PASSINI ,  Lamya SHIHABUDDIN ,  Seng H. CHENG

IPC: A61K48/00 ,  A61K38/17 ,  C12N7/00

CPC classification number: A61K38/1709 ,  A61K31/7088 ,  A61K48/00 ,  A61K48/0008 ,  A61K48/005 ,  A61K48/0075 ,  C07K14/4702 ,  C12N7/00 ,  C12N15/86 ,  C12N2750/14121 ,  C12N2750/14133 ,  C12N2750/14143 ,  C12N2750/14171

Abstract: Compositions and methods for treating disorders affecting motor function, such as motor function affected by disease or injury to the brain and/or spinal cord, are disclosed.

公开(公告)号：US20150313970A1

公开(公告)日：2015-11-05

申请号：US14559851

申请日：2014-12-03

Applicant: Genzyme Corporation

Inventor： James DODGE ,  Marco A. PASSINI ,  Lamya SHIHABUDDIN ,  Seng H. CHENG

IPC: A61K38/46 ,  A61K38/47 ,  A61K9/00

CPC classification number: A61K38/465 ,  A61K9/0019 ,  A61K38/47 ,  C12Y301/04012 ,  C12Y301/06013 ,  C12Y302/0102 ,  C12Y302/01045 ,  C12Y302/01076 ,  C12Y304/14

Abstract: Lysosomal storage diseases can be successfully treated using intraventricular delivery of the enzyme which is etiologically deficient in the disease. The administration can be performed slowly to achieve maximum effect. Surprisingly, effects are seen on both sides of the blood-brain barrier, making this an ideal delivery means for lysosomal storage diseases which affect both brain and visceral organs.

公开(公告)号：US20250026749A1

公开(公告)日：2025-01-23

申请号：US18777773

申请日：2024-07-19

Applicant: Genzyme Corporation

Inventor： Elyse BOURQUE ,  Mario A. CABRERA-SALAZAR ,  Cassandra CELATKA ,  Seng H. CHENG ,  Bradford HIRTH ,  Andrew GOOD ,  Katherine JANCSICS ,  John MARSHALL ,  Markus METZ ,  Ronald K. SCHEULE ,  Renato SKERLJ ,  Yibin XIANG ,  Zhong ZHAO ,  John LEONARD ,  Thomas NATOLI ,  Elina MAKINO ,  Herve HUSSON ,  Oxana BESKROVNAYA

IPC: C07D453/02 ,  A61K31/439 ,  A61K31/496 ,  A61K31/497 ,  A61K31/506 ,  A61K31/5377 ,  A61K31/55 ,  A61K31/551 ,  A61K45/06 ,  C07D471/08

Abstract: The invention relates to inhibitors of glucosylceramide synthase (GCS) useful for the treatment of metabolic diseases, such as lysosomal storage diseases, either alone or in combination with enzyme replacement therapy, cystic disease and for the treatment of cancer.

公开(公告)号：US20200080066A1

公开(公告)日：2020-03-12

申请号：US16544735

申请日：2019-08-19

Applicant: Genzyme Corporation

Inventor： Marco A. PASSINI ,  Robin J. ZIEGLER ,  James C. DODGE ,  Lamya SHIHABUDDIN ,  Seng H. CHENG

IPC: C12N9/16 ,  C12N15/86 ,  A61K48/00 ,  C12N15/85

Abstract: This disclosure pertains to methods and compositions for tolerizing a mammal's brain to exogenously administered acid sphingomyelinase polypeptide by first delivering an effective amount of a transgene encoding the polypeptide to the mammal's hepatic tissue and then administering an effective amount of the transgene to the mammal's central nervous system (CNS).