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<meta name="keywords" content="CN185459, cftr, ivacaftor response, kalydeco response, sign or symptom, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Ivacaftor is the first FDA-approved drug designed to target a specific defect of the CFTR protein found in a subset of Cystic fibrosis (CF) patients. Hundreds of different variants within the CFTR gene have been identified. The G551D variant (rs75527207 G>A) results in defective gating at the plasma membrane and, in combination with another disease-causing CFTR allele, can result in CF disease phenotypes. Ivacaftor is designed to potentiate G115D-CFTR to improve symptoms in CF patients who carry this variant. Therapeutic guidelines for ivacaftor based on CFTR genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website." /><meta name="robots" content="index,nofollow,noarchive" />
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|
||
<!--
|
||
UID=776837
|
||
ConceptID=CN185459
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Ivacaftor response</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>776837</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">CN185459</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Kalydeco response</td></tr>
|
||
<tr><td>Drug:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="drug_471967"><div><strong>Ivacaftor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>471967</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3264621</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Organic Chemical</dd></dl></div></div></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#drug_471967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ivacaftor</a></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="CFTR - ID: 1080 - NCBI Gene" href="/gene/1080" class="medgenPMinfo">CFTR</a> (7q31.2)</td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Ivacaftor is the first FDA-approved drug designed to target a specific defect of the CFTR protein found in a subset of Cystic fibrosis (CF) patients. Hundreds of different variants within the CFTR gene have been identified. The G551D variant (rs75527207 G>A) results in defective gating at the plasma membrane and, in combination with another disease-causing CFTR allele, can result in CF disease phenotypes. Ivacaftor is designed to potentiate G115D-CFTR to improve symptoms in CF patients who carry this variant. Therapeutic guidelines for ivacaftor based on CFTR genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website. [from <a title="The Pharmacogenomics Knowledge Base" href="http://www.pharmgkb.org" class="defSource" target="_blank">PharmGKB</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37833986">CFTR Function Restoration upon Elexacaftor/Tezacaftor/Ivacaftor Treatment in Patient-Derived Intestinal Organoids with Rare CFTR Genotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lefferts JW,
|
||
Bierlaagh MC,
|
||
Kroes S,
|
||
Nieuwenhuijze NDA,
|
||
Sonneveld van Kooten HN,
|
||
Niemöller PJ,
|
||
Verburg TF,
|
||
Janssens HM,
|
||
Muilwijk D,
|
||
van Beuningen SFB,
|
||
van der Ent CK,
|
||
Beekman JM</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Sep 26;24(19)
|
||
doi: 10.3390/ijms241914539.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37833986" target="_blank">37833986</a><a href="/pmc/articles/PMC10572896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32154747">Ivacaftor for the treatment of cystic fibrosis in children under six years of age.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aoyama BC,
|
||
Mogayzel PJ</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Respir Med</span>
|
||
2020 Jun;14(6):547-557.
|
||
Epub 2020 Mar 17
|
||
doi: 10.1080/17476348.2020.1741352.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32154747" target="_blank">32154747</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31626570">Tezacaftor and ivacaftor for the treatment of cystic fibrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paterson SL,
|
||
Barry PJ,
|
||
Horsley AR</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Respir Med</span>
|
||
2020 Jan;14(1):15-30.
|
||
Epub 2019 Oct 31
|
||
doi: 10.1080/17476348.2020.1682998.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31626570" target="_blank">31626570</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(ivacaftor%20response)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (18)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35315358">CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raraigh KS,
|
||
Paul KC,
|
||
Goralski JL,
|
||
Worthington EN,
|
||
Faino AV,
|
||
Sciortino S,
|
||
Wang Y,
|
||
Aksit MA,
|
||
Ling H,
|
||
Osorio DL,
|
||
Onchiri FM,
|
||
Patel SU,
|
||
Merlo CA,
|
||
Montemayor K,
|
||
Gibson RL,
|
||
West NE,
|
||
Thakerar A,
|
||
Bridges RJ,
|
||
Sheppard DN,
|
||
Sharma N,
|
||
Cutting GR</span><br />
|
||
<span class="medgenPMjournal">JCI Insight</span>
|
||
2022 Mar 22;7(6)
|
||
doi: 10.1172/jci.insight.148841.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35315358" target="_blank">35315358</a><a href="/pmc/articles/PMC8986068" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33949881">Patient personalized translational tools in cystic fibrosis to transform data from bench to bed-side and back.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arora K,
|
||
Yang F,
|
||
Brewington J,
|
||
McPhail G,
|
||
Cortez AR,
|
||
Sundaram N,
|
||
Ramananda Y,
|
||
Ogden H,
|
||
Helmrath M,
|
||
Clancy JP,
|
||
Naren AP</span><br />
|
||
<span class="medgenPMjournal">Am J Physiol Gastrointest Liver Physiol</span>
|
||
2021 Jun 1;320(6):G1123-G1130.
|
||
Epub 2021 May 5
|
||
doi: 10.1152/ajpgi.00095.2021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33949881" target="_blank">33949881</a><a href="/pmc/articles/PMC8285588" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33278322">G970R-CFTR Mutation (c.2908G>C) Results Predominantly in a Splicing Defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fidler MC,
|
||
Buckley A,
|
||
Sullivan JC,
|
||
Statia M,
|
||
Boj SF,
|
||
Vries RGJ,
|
||
Munck A,
|
||
Higgins M,
|
||
Moretto Zita M,
|
||
Negulescu P,
|
||
van Goor F,
|
||
De Boeck K</span><br />
|
||
<span class="medgenPMjournal">Clin Transl Sci</span>
|
||
2021 Mar;14(2):656-663.
|
||
Epub 2020 Dec 6
|
||
doi: 10.1111/cts.12927.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33278322" target="_blank">33278322</a><a href="/pmc/articles/PMC7993255" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29461009">Metabolomic responses to lumacaftor/ivacaftor in cystic fibrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kopp BT,
|
||
McCulloch S,
|
||
Shrestha CL,
|
||
Zhang S,
|
||
Sarzynski L,
|
||
Woodley FW,
|
||
Hayes D Jr</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2018 May;53(5):583-591.
|
||
Epub 2018 Feb 20
|
||
doi: 10.1002/ppul.23972.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29461009" target="_blank">29461009</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28068001">In vivo and in vitro ivacaftor response in cystic fibrosis patients with residual CFTR function: N-of-1 studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McGarry ME,
|
||
Illek B,
|
||
Ly NP,
|
||
Zlock L,
|
||
Olshansky S,
|
||
Moreno C,
|
||
Finkbeiner WE,
|
||
Nielson DW</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2017 Apr;52(4):472-479.
|
||
Epub 2017 Jan 9
|
||
doi: 10.1002/ppul.23659.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28068001" target="_blank">28068001</a><a href="/pmc/articles/PMC5461115" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ivacaftor%20response%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37068695">Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi® (Lumacaftor and Ivacaftor) response in vitro.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos LG,
|
||
Pereira SV,
|
||
Kmit AHP,
|
||
Bonadia LC,
|
||
Bertuzzo CS,
|
||
Ribeiro JD,
|
||
Mazzola TN,
|
||
Marson FAL</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2023 Jun 30;871:147428.
|
||
Epub 2023 Apr 15
|
||
doi: 10.1016/j.gene.2023.147428.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37068695" target="_blank">37068695</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28068001">In vivo and in vitro ivacaftor response in cystic fibrosis patients with residual CFTR function: N-of-1 studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McGarry ME,
|
||
Illek B,
|
||
Ly NP,
|
||
Zlock L,
|
||
Olshansky S,
|
||
Moreno C,
|
||
Finkbeiner WE,
|
||
Nielson DW</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2017 Apr;52(4):472-479.
|
||
Epub 2017 Jan 9
|
||
doi: 10.1002/ppul.23659.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28068001" target="_blank">28068001</a><a href="/pmc/articles/PMC5461115" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ivacaftor%20response%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37068695">Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi® (Lumacaftor and Ivacaftor) response in vitro.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos LG,
|
||
Pereira SV,
|
||
Kmit AHP,
|
||
Bonadia LC,
|
||
Bertuzzo CS,
|
||
Ribeiro JD,
|
||
Mazzola TN,
|
||
Marson FAL</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2023 Jun 30;871:147428.
|
||
Epub 2023 Apr 15
|
||
doi: 10.1016/j.gene.2023.147428.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37068695" target="_blank">37068695</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33278322">G970R-CFTR Mutation (c.2908G>C) Results Predominantly in a Splicing Defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fidler MC,
|
||
Buckley A,
|
||
Sullivan JC,
|
||
Statia M,
|
||
Boj SF,
|
||
Vries RGJ,
|
||
Munck A,
|
||
Higgins M,
|
||
Moretto Zita M,
|
||
Negulescu P,
|
||
van Goor F,
|
||
De Boeck K</span><br />
|
||
<span class="medgenPMjournal">Clin Transl Sci</span>
|
||
2021 Mar;14(2):656-663.
|
||
Epub 2020 Dec 6
|
||
doi: 10.1111/cts.12927.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33278322" target="_blank">33278322</a><a href="/pmc/articles/PMC7993255" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28068001">In vivo and in vitro ivacaftor response in cystic fibrosis patients with residual CFTR function: N-of-1 studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McGarry ME,
|
||
Illek B,
|
||
Ly NP,
|
||
Zlock L,
|
||
Olshansky S,
|
||
Moreno C,
|
||
Finkbeiner WE,
|
||
Nielson DW</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pulmonol</span>
|
||
2017 Apr;52(4):472-479.
|
||
Epub 2017 Jan 9
|
||
doi: 10.1002/ppul.23659.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28068001" target="_blank">28068001</a><a href="/pmc/articles/PMC5461115" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ivacaftor%20response%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=CN185459%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=CN185459%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=CN185459%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.pharmgkb.org/chemical/PA165950341" target="_blank">PharmGKB</a></li><li><a href="https://clinicaltrials.gov/search?cond=Ivacaftor%20response" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(ivacaftor%20response)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Ivacaftor%20response%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="ralinkpop offscreen_noflow">LOC113225352 [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:113225352</div></div>
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