Literature DB >> 35558347

CFTR Modulator Therapy in an Individual With Cystic Fibrosis Caused by a N1303K CFTR Variant and Infected With Mycobacterium abscessus.

E Claire Elson1, Paula Capel1, Jessica Haynes1, Stephanie Duehlmeyer1, Michelle Fischer1, Hugo Escobar1.   

Abstract

This report describes a case of a 15-year-old male with cystic fibrosis caused by N1303K and Q493X cystic fibrosis transmembrane conductance regulator (CFTR) protein variants. In this case, CFTR modulators including tezacaftor-ivacaftor and subsequently elexacaftor-tezacaftor-ivacaftor were used and resulted in clinical stability and improvement. Copyright. Pediatric Pharmacy Association. All rights reserved. For permissions, email: mhelms@pediatricpharmacy.org 2022.

Entities:  

Keywords:  case reports; cystic fibrosis; cystic fibrosis transmembrane conductance regulator

Year:  2022        PMID： 35558347      PMCID： PMC9088447          DOI： 10.5863/1551-6776-27.4.396

Source DB:  PubMed          Journal:  J Pediatr Pharmacol Ther        ISSN： 1551-6776


  8 in total

1.  Physiological and pharmacological characterization of the N1303K mutant CFTR.

Authors:  Samantha DeStefano; Maarten Gees; Tzyh-Chang Hwang
Journal:  J Cyst Fibros       Date:  2018-06-07       Impact factor: 5.482

2.  In vivo and in vitro ivacaftor response in cystic fibrosis patients with residual CFTR function: N-of-1 studies.

Authors:  Meghan E McGarry; Beate Illek; Ngoc P Ly; Lorna Zlock; Sabrina Olshansky; Courtney Moreno; Walter E Finkbeiner; Dennis W Nielson
Journal:  Pediatr Pulmonol       Date:  2017-01-09

3.  Elexacaftor/Tezacaftor/Ivacaftor Improved Clinical Outcomes in a Patient with N1303K-CFTR Based on In Vitro Experimental Evidence.

Authors:  Yunjie Huang; Grace Paul; Jesun Lee; Sunitha Yarlagadda; Karen McCoy; Anjaparavanda P Naren
Journal:  Am J Respir Crit Care Med       Date:  2021-11-15       Impact factor: 30.528

4.  Ivacaftor in cystic fibrosis with residual function: Lung function results from an N-of-1 study.

Authors:  Jerry A Nick; Connie St Clair; Marion C Jones; Lan Lan; Mark Higgins
Journal:  J Cyst Fibros       Date:  2019-11-26       Impact factor: 5.482

5.  Rescue of multiple class II CFTR mutations by elexacaftor+tezacaftor+ivacaftor mediated in part by the dual activities of elexacaftor as both corrector and potentiator.

Authors:  Onofrio Laselva; Claire Bartlett; Tarini N A Gunawardena; Hong Ouyang; Paul D W Eckford; Theo J Moraes; Christine E Bear; Tanja Gonska
Journal:  Eur Respir J       Date:  2021-06-17       Impact factor: 16.671

6.  From Ivacaftor to Triple Combination: A Systematic Review of Efficacy and Safety of CFTR Modulators in People with Cystic Fibrosis.

Authors:  Andrea Gramegna; Martina Contarini; Stefano Aliberti; Rosaria Casciaro; Francesco Blasi; Carlo Castellani
Journal:  Int J Mol Sci       Date:  2020-08-16       Impact factor: 5.923

7.  US Cystic Fibrosis Foundation and European Cystic Fibrosis Society consensus recommendations for the management of non-tuberculous mycobacteria in individuals with cystic fibrosis.

Authors:  R Andres Floto; Kenneth N Olivier; Lisa Saiman; Charles L Daley; Jean-Louis Herrmann; Jerry A Nick; Peadar G Noone; Diana Bilton; Paul Corris; Ronald L Gibson; Sarah E Hempstead; Karsten Koetz; Kathryn A Sabadosa; Isabelle Sermet-Gaudelus; Alan R Smyth; Jakko van Ingen; Richard J Wallace; Kevin L Winthrop; Bruce C Marshall; Charles S Haworth
Journal:  Thorax       Date:  2016-01       Impact factor: 9.139

8.  Allosteric folding correction of F508del and rare CFTR mutants by elexacaftor-tezacaftor-ivacaftor (Trikafta) combination.

Authors:  Guido Veit; Ariel Roldan; Mark A Hancock; Dillon F Da Fonte; Haijin Xu; Maytham Hussein; Saul Frenkiel; Elias Matouk; Tony Velkov; Gergely L Lukacs
Journal:  JCI Insight       Date:  2020-09-17
  8 in total

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