依伐卡托,临床注释-2,变异和临床注释数据

依伐卡托

临床注释ID

1183960318

药物名称(英)

ivacaftor

变异单倍型

rs121908755

基因

CFTR

证据级别

1A

水平覆盖

水平修饰符

Rare Variant; Tier 1 VIP

表现型类别(英)

Efficacy

表现型类别

功效

分数

202.5

PMID计数

5

计数的证据

7

表现型

囊性纤维化

表现型(英)

Cystic Fibrosis

最新日期

2021/3/24 0:00:00

URL

https://www.pharmgkb.org/clinicalAnnotation/1183960318

专业人口(英)

Pediatric

专业人口

儿科

临床等位基因

id	等位基因	注释文本
879	GG	Patients with the rs121908755 GG genotype (do not have a copy of the CFTR S549N variant) and cystic fibrosis have an unknown response to ivacaftor treatment, as response may depend on the presence of other CFTR variants. FDA-approved drug labeling information and CPIC guidelines indicate use of ivacaftor in cystic fibrosis patients with at least one copy of a list of 33 CFTR genetic variants, including S549N. Other genetic and clinical factors may also influence response to ivacaftor.
878	AG	Patients with the rs121908755 AG genotype (one copy of the CFTR S549N variant) and cystic fibrosis may respond to ivacaftor treatment. FDA-approved drug labeling information and CPIC guidelines indicate use of ivacaftor in cystic fibrosis patients with at least one copy of a list of 33 CFTR genetic variants, including S549N. Other genetic and clinical factors may also influence response to ivacaftor.
877	AA	Patients with the rs121908755 AA genotype (two copies of the CFTR S549N variant) and cystic fibrosis may respond to ivacaftor treatment. FDA-approved drug labeling information and CPIC guidelines indicate use of ivacaftor in cystic fibrosis patients with at least one copy of a list of 33 CFTR genetic variants, including S549N. Other genetic and clinical factors may also influence response to ivacaftor.

临床证据

id	证据的ID	总结
3712	1183960686	Allele A is associated with increased response to ivacaftor.
3711	1449192774	Allele A is associated with response to ivacaftor in children with Cystic Fibrosis.
3710	1449191831	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.
3709	1183960311	Allele A is associated with response to ivacaftor in children with Cystic Fibrosis.
3708	982009662	Allele A is associated with increased activity of CFTR when treated with ivacaftor in CFBEo- cells.
3707	PA166104890	Annotation of FDA Label for ivacaftor and CFTR
3706	PA166114461	Annotation of CPIC Guideline for ivacaftor and CFTR

临床病史

id	类型	评论
1304	Update	CA score added as part of scoring system release. LOE assigned following curator review.
1303	Update	Added rsID to phenotype descriptions
1302	Update	Attached CPIC guideline and FDA label for ivacaftor.
1301	Update	Added reason for override.
1300	Update	Added PMID 28371569 to evidence

最新招商产品更多>>