Ivacaftor withdrawal syndrome in cystic fibrosis patients with the G551D mutation

Aaron T. Trimble; Scott H. Donaldson

doi:10.1016/j.jcf.2017.09.006

Ivacaftor withdrawal syndrome in cystic fibrosis patients with the G551D mutation

Aaron T. Trimble, Scott H. Donaldson

Research output: Contribution to journal › Article › peer-review

49 Scopus citations

Abstract

Ivacaftor use can lead to dramatic health improvements in cystic fibrosis (CF) patients with gating mutations. Here, we report five instances of dramatic clinical decline following withdrawal of ivacaftor in three individuals with the G551D-CFTR mutation. In each case, the patient's lung function and symptoms rapidly deteriorated after cessation of treatment. Awareness of this phenomenon should inform both clinical practices as well as the design of future clinical trials of highly active CFTR modulators.

Original language	English (US)
Pages (from-to)	e13-e16
Journal	Journal of Cystic Fibrosis
Volume	17
Issue number	2
DOIs	https://doi.org/10.1016/j.jcf.2017.09.006
State	Published - Mar 2018
Externally published	Yes

Keywords

Acute pulmonary exacerbation
CFTR modulator
Cystic fibrosis
G551D
Ivacaftor

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Pulmonary and Respiratory Medicine

Access to Document

10.1016/j.jcf.2017.09.006

Cite this

@article{bc043badc39d459bb45210423dba70e9,

title = "Ivacaftor withdrawal syndrome in cystic fibrosis patients with the G551D mutation",

abstract = "Ivacaftor use can lead to dramatic health improvements in cystic fibrosis (CF) patients with gating mutations. Here, we report five instances of dramatic clinical decline following withdrawal of ivacaftor in three individuals with the G551D-CFTR mutation. In each case, the patient's lung function and symptoms rapidly deteriorated after cessation of treatment. Awareness of this phenomenon should inform both clinical practices as well as the design of future clinical trials of highly active CFTR modulators.",

keywords = "Acute pulmonary exacerbation, CFTR modulator, Cystic fibrosis, G551D, Ivacaftor",

author = "Trimble, {Aaron T.} and Donaldson, {Scott H.}",

note = "Publisher Copyright: {\textcopyright} 2017 European Cystic Fibrosis Society",

year = "2018",

month = mar,

doi = "10.1016/j.jcf.2017.09.006",

language = "English (US)",

volume = "17",

pages = "e13--e16",

journal = "Journal of Cystic Fibrosis",

issn = "1569-1993",

publisher = "Elsevier",

number = "2",

}

TY - JOUR

T1 - Ivacaftor withdrawal syndrome in cystic fibrosis patients with the G551D mutation

AU - Trimble, Aaron T.

AU - Donaldson, Scott H.

PY - 2018/3

Y1 - 2018/3

N2 - Ivacaftor use can lead to dramatic health improvements in cystic fibrosis (CF) patients with gating mutations. Here, we report five instances of dramatic clinical decline following withdrawal of ivacaftor in three individuals with the G551D-CFTR mutation. In each case, the patient's lung function and symptoms rapidly deteriorated after cessation of treatment. Awareness of this phenomenon should inform both clinical practices as well as the design of future clinical trials of highly active CFTR modulators.

AB - Ivacaftor use can lead to dramatic health improvements in cystic fibrosis (CF) patients with gating mutations. Here, we report five instances of dramatic clinical decline following withdrawal of ivacaftor in three individuals with the G551D-CFTR mutation. In each case, the patient's lung function and symptoms rapidly deteriorated after cessation of treatment. Awareness of this phenomenon should inform both clinical practices as well as the design of future clinical trials of highly active CFTR modulators.

KW - Acute pulmonary exacerbation

KW - CFTR modulator

KW - Cystic fibrosis

KW - G551D

KW - Ivacaftor

UR - http://www.scopus.com/inward/record.url?scp=85032209631&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85032209631&partnerID=8YFLogxK

U2 - 10.1016/j.jcf.2017.09.006

DO - 10.1016/j.jcf.2017.09.006

M3 - Article

C2 - 29079142

AN - SCOPUS:85032209631

SN - 1569-1993

VL - 17

SP - e13-e16

JO - Journal of Cystic Fibrosis

JF - Journal of Cystic Fibrosis

IS - 2

ER -

Ivacaftor withdrawal syndrome in cystic fibrosis patients with the G551D mutation

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this