Real-world Orkambi Cork (ROCK) study - a prospective 12 months analysis addressing the impact of CFTR modulation in patients with cystic fibrosis homozygous for F508del CFTR variant

Cystic fibrosis (CF) stands as one of modern medicine's success stories, with significant and sustained improvements in survival rates, transforming it from a childhood fatal condition to one of adult survival. Historically, CF management has centered on addressing the consequences of CFTR dysfunction. The introduction of Lumacaftor-Ivacaftor marks a pivotal shift, allowing researchers to assess the impact of CFTR function restoration on both pulmonary disease and extrapulmonary manifestations. Globally, approximately 82% of individuals with CF are homozygous for the F508del mutation, whereas this prevalence is 53% at the Cork CF centre. This study examines the effects of CFTR modulation on clinical outcomes, patient-reported measures, systemic and airway inflammation, and lung microbiota composition.

Grantor dc:publisher

University College Cork

Year dc:date.issued

2024

Author dc:creator

• Arooj, Parniya

Advisors dc:contributor.advisor

• Plant, Barry
• Eustace, Joe

• CFTR modulation
• Cystic fibrosis
• Lumacaftor-Ivacaftor

Statement dc:rights

• © 2024, Parniya Arooj.

Licence dc:rights.uri

• https://creativecommons.org/licenses/by-nc-nd/4.0/

Language dc:language.iso

en

Handle dc:identifier.uri

https://hdl.handle.net/10468/17064

OAI identifier oai:identifier

oai:cora.ucc.ie:10468/17064