公开(公告)号：EP4154889A1

公开(公告)日：2023-03-29

申请号：EP22197344.9

申请日：2022-09-23

申请人： Charité - Universitätsmedizin Berlin ,  Max-Delbrück-Centrum für Molekulare Medizin in der Helmholtz-Gemeinschaft

发明人： Schülke-Gerstenfeld, Markus ,  Prigione, Alessandro

IPC分类号： A61K31/4985 ,  A61K31/519 ,  A61K31/53 ,  A61K45/06 ,  A61P25/02 ,  A61P21/00 ,  A61P27/02 ,  A61P25/28 ,  A61P25/08

摘要： The invention relates to a PDE5 inhibitor for use in the treatment and/or prevention of a medical condition associated with mitochondrial Complex V (ATP synthase) deficiency in a human subject. In embodiments, the mitochondrial Complex V deficiency comprises at least one mutation within a structural subunit gene, or within an assembly gene, of the mitochondrial Complex V (ATP synthase). In embodiments, the invention relates to PDE5 inhibitors, such as sildenafil or tadalafil, in the treatment and/or prevention of a Maternally Inherited Leigh syndrome (MILS), a Neuropathy, an Ataxia or a Retinitis Pigmentosa (NARP) syndrome, or a neurological syndrome associated with a mitochondrial Complex V deficiency. In embodiments, the invention relates to treatment of mitochondrial Complex V deficiency caused by at least one mutation in nuclear or mitochondrial DNA, preferably DNA mutations in the MT-ATP6 gene causing MILS or NARP. The invention further relates to a pharmaceutical composition comprising a PDE5 inhibitor for use in the treatment and/or prevention of a medical condition associated with mitochondrial Complex V deficiency.

公开(公告)号：EP4154888A1

公开(公告)日：2023-03-29

申请号：EP21198827.4

申请日：2021-09-24

申请人： Charité - Universitätsmedizin Berlin ,  Max-Delbrück-Centrum für Molekulare Medizin in der Helmholtz-Gemeinschaft

发明人： Schülke-Gerstenfeld, Markus ,  Prigione, Alessandro

IPC分类号： A61K31/4985 ,  A61K31/519 ,  A61K31/53 ,  A61K45/06 ,  A61P25/02 ,  A61P21/00 ,  A61P27/02 ,  A61P25/28 ,  A61P25/08

摘要： The invention relates to a PDE5 inhibitor for use in the treatment and/or prevention of a medical condition associated with mitochondrial Complex V (ATP synthase) deficiency in a human subject. In embodiments, the mitochondrial Complex V deficiency comprises at least one mutation within a structural subunit gene, or within an assembly gene, of the mitochondrial Complex V (ATP synthase). In embodiments, the invention relates to PDE5 inhibitors, such as sildenafil or tadalafil, in the treatment and/or prevention of a Maternally Inherited Leigh syndrome (MILS), a Neuropathy, an Ataxia or a Retinitis Pigmentosa (NARP) syndrome, or a neurological syndrome associated with a mitochondrial Complex V deficiency. In embodiments, the invention relates to treatment of mitochondrial Complex V deficiency caused by at least one mutation in nuclear or mitochondrial DNA, preferably DNA mutations in the MT-ATP6 gene causing MILS or NARP. The invention further relates to a pharmaceutical composition comprising a PDE5 inhibitor for use in the treatment and/or prevention of a medical condition associated with mitochondrial Complex V deficiency.