公开(公告)号：EP3773744A1

公开(公告)日：2021-02-17

申请号：EP19724606.9

申请日：2019-04-05

申请人： Istituti Clinici Scientifici Maugeri S.p.A. S.B.

发明人： PRIORI, Silvia G. ,  MAZZANTI, Andrea ,  DENEGRI, Marco ,  NAPOLITANO, Carlo

IPC分类号： A61K48/00 ,  C12N15/86 ,  C07K14/47 ,  A01K67/027

公开(公告)号：EP4356727A3

公开(公告)日：2024-07-24

申请号：EP24160383.6

申请日：2019-04-05

申请人： Istituti Clinici Scientifici Maugeri S.p.A. S.B.

发明人： PRIORI, Silvia G. ,  MAZZANTI, Andrea ,  DENEGRI, Marco ,  NAPOLITANO, Carlo

IPC分类号： A61K48/00 ,  C12N15/86 ,  C07K14/47 ,  A01K67/0278

CPC分类号： C07K14/4728 ,  A01K67/0278 ,  A01K2217/07220130101 ,  A01K2227/10520130101 ,  A01K2267/030620130101 ,  A61K48/005 ,  A61K48/0058 ,  C12N15/86 ,  C12N2750/1414320130101 ,  C12N2830/00820130101 ,  C12N2830/4820130101 ,  C12N2840/20320130101

摘要： The disclosure features compositions and methods for the treatment of catecholaminergic polymorphic ventricular tachycardia (CPVT), particularly forms of the disease that are inherited in an autosomal dominant manner, by way of calsequestrin 2 (CASQ2) gene therapy. The compositions and methods described herein can be used to treat CPVT caused by mutations in, for example, ryanodine receptor 2 and calmodulin, such as calmodulin 1 (CALM1) and CALMS. The disclosure provides a variety of vectors that can be used for the delivery of a CASQ2 transgene to a patient, such as a human patient suffering from autosomal dominant CPVT, including adeno-associated virus vectors, among others.

公开(公告)号：EP4356727A2

公开(公告)日：2024-04-24

申请号：EP24160383.6

申请日：2019-04-05

申请人： Istituti Clinici Scientifici Maugeri S.p.A. S.B.

发明人： PRIORI, Silvia G. ,  MAZZANTI, Andrea ,  DENEGRI, Marco ,  NAPOLITANO, Carlo

IPC分类号： A01K67/027

CPC分类号： C07K14/4728 ,  A01K67/0278 ,  A01K2217/07220130101 ,  A01K2227/10520130101 ,  A01K2267/030620130101 ,  A61K48/005 ,  A61K48/0058 ,  C12N15/86 ,  C12N2750/1414320130101 ,  C12N2830/00820130101 ,  C12N2830/4820130101 ,  C12N2840/20320130101

摘要： The disclosure features compositions and methods for the treatment of catecholaminergic polymorphic ventricular tachycardia (CPVT), particularly forms of the disease that are inherited in an autosomal dominant manner, by way of calsequestrin 2 (CASQ2) gene therapy. The compositions and methods described herein can be used to treat CPVT caused by mutations in, for example, ryanodine receptor 2 and calmodulin, such as calmodulin 1 (CALM1) and CALMS. The disclosure provides a variety of vectors that can be used for the delivery of a CASQ2 transgene to a patient, such as a human patient suffering from autosomal dominant CPVT, including adeno-associated virus vectors, among others.