P080 Improved clinical outcomes following ivacaftor treatment in a cystic fibrosis patient homozygous for 3272–26A>G variant

Objectives: 3272-26A>G variant is a functional class V CFTR mutation. The clinical effect of ivacaftor treatment in people with CF (pwCF) variant, non eligible for other modulator therapies, remains unknown. Methods: Ivacaftor was commenced 24 year old female pancreatic sufficient pwCF homozygous variant. Clinical evaluation, patient-reported outcome measures (the Cystic Fibrosis Questionnaire - Revised CFQ-R), lung function (forced expiratory volume one second (FEV1) % predicted), nutritional status (body mass index BMI) and exercise capacity (3-minute step test 3MST), were assessed at baseline regular 3 month intervals during study period. Baseline therapies remained unchanged to avoid influencing any measures. Results: Our patient presented chronic cough rhinitis diagnosed the age 16.5 years. Although reasonably well preserved, she adherent daily airway clearance treatment. After commencement, CFQ-R results showed improvements especially physical vitality scoring. Improved also 3MST heart rate end dropping from 150 bpm 85 after therapy. Lung improved months therapy (FEV1% predicted 72% vs 83%) sustained 1-year post initiation had 1.7 kg weight gain (71.3 73.0 kg, BMI 22.5 kg/m 23.0 kg/m). Conclusions: We present case demonstrating several outcomes following believe our experience could represent relevant information management decisions patients or compound heterozygotes this who are registered therapies.