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

981755803

药物名称(英)

ivacaftor

变异单倍型

rs75527207

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

234.875

PMID计数

28

计数的证据

30

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/981755803

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
1036	GG	Patients with the rs75527207 GG genotype (do not have a copy of the CFTR G551D 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 G551D. Other genetic and clinical factors may also influence response to ivacaftor.
1035	AG	Patients with the rs75527207 AG genotype (one copy of the CFTR G551D 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 G551D. Other genetic and clinical factors may also influence response to ivacaftor.
1034	AA	Patients with the rs75527207 AA genotype (two copies of the CFTR G551D 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 G551D. Other genetic and clinical factors may also influence response to ivacaftor.

临床证据

id	证据的ID	总结
4842	1448099051	Genotypes AA + AG are associated with increased response to ivacaftor in people with Cystic Fibrosis as compared to genotype GG.
4841	1446903789	Genotypes AA + AG are associated with response to ivacaftor in people with Cystic Fibrosis.
4840	981755787	Allele A is associated with increased response to ivacaftor.
4839	981755699	Allele A is associated with increased response to ivacaftor.
4838	981755746	Allele A is associated with increased response to ivacaftor.
4837	1184512440	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.
4836	1450043422	Allele A is associated with response to ivacaftor in children with Cystic Fibrosis.
4835	1449192721	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.
4834	1449192709	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.
4833	1449192615	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.
4832	1449192576	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.
4831	1449192494	Allele A is associated with response to ivacaftor in children with Cystic Fibrosis.
4830	1449192481	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.
4829	1449192439	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.
4828	1449192093	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.
4827	1449192055	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.
4826	1449192031	Allele A is associated with decreased likelihood of cystic fibrosis pulmonary exacerbation when treated with ivacaftor in people with Cystic Fibrosis.
4825	1449191908	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.
4824	1448423752	Genotypes AA + AG is associated with increased response to ivacaftor in people with Cystic Fibrosis as compared to genotype GG.
4823	1448267532	Genotypes AA + AG is associated with decreased severity of bone density when treated with ivacaftor in people with Cystic Fibrosis as compared to genotype GG.
4822	1183629335	Genotype AA is associated with response to ivacaftor in women with Cystic Fibrosis.
4821	1043737636	Allele A is associated with activity of CFTR when treated with ivacaftor in FRT cell lines.
4820	1043737620	Allele A is associated with increased activity of CFTR when treated with ivacaftor in transfected CHO cells.
4819	1043737597	Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.
4818	982009991	Allele A is associated with response to ivacaftor in children with Cystic Fibrosis.
4817	982006840	Allele A is associated with response to ivacaftor in men with Cystic Fibrosis.
4816	981755678	Genotypes AA + AG are associated with response to ivacaftor in people with Cystic Fibrosis.
4815	981755665	Genotypes AA + AG are associated with response to ivacaftor in people with Cystic Fibrosis.
4814	PA166104890	Annotation of FDA Label for ivacaftor and CFTR
4813	PA166114461	Annotation of CPIC Guideline for ivacaftor and CFTR

临床病史

id	类型	评论
804	Update	CA score added as part of scoring system release. LOE assigned following curator review.
803	Update	Added rsID to phenotype descriptions
802	Update	Small edit to text to match template.
801	Update	Attached CPIC guideline and FDA label for ivacaftor. Did not attach combination drugs yet as need to verify which have variants in the label.
800	Update	Updated text to match new format. Added guideline and drug label as reason for overide from 1B to 1A.
799	Update	Added PMID 23628510 to evidence
798	Update	Added PMID 25145599 to evidence

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