Digestive Diseases and Sciences

, Volume 61, Issue 1, pp 198–207 | Cite as

Nutritional Status Improved in Cystic Fibrosis Patients with the G551D Mutation After Treatment with Ivacaftor

  • Drucy Borowitz
  • Barry Lubarsky
  • Michael Wilschanski
  • Anne Munck
  • Daniel Gelfond
  • Frank Bodewes
  • Sarah Jane Schwarzenberg
Original Article



The cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gating mutation G551D prevents sufficient ion transport due to reduced channel-open probability. Ivacaftor, an oral CFTR potentiator, increases the channel-open probability.


To further analyze improvements in weight and body mass index (BMI) in two studies of ivacaftor in patients aged ≥6 years with CF and the G551D mutation.


Patients were randomized 1:1 to ivacaftor 150 mg or placebo every 12 h for 48 weeks. Primary end point (lung function) was reported previously. Other outcomes included weight and height measurements and CF Questionnaire-Revised (CFQ-R).


Studies included 213 patients (aged ≤ 20 years, n = 105; aged > 20 years, n = 108). In patients ≤20 years, adjusted mean change from baseline to week 48 in body weight was 4.9 versus 2.2 kg (ivacaftor vs. placebo, p = 0.0008). At week 48, change from baseline in mean weight-for-age z-score was 0.29 versus −0.06 (p < 0.0001); change in mean BMI-for-age z-score was 0.26 versus −0.13 (p < 0.0001). In patients >20 years, adjusted mean change from baseline to week 48 in body weight was 2.7 versus −0.2 kg (p = 0.0003). Mean BMI change at week 48 was 0.9 versus −0.1 kg/m2 (p = 0.0003). There was no linear correlation evident between changes in body weight and improvements in lung function or sweat chloride. Significant CFQ-R improvements were seen in perception of eating, body image, and sense of ability to gain weight.


Nutritional status improved following treatment with ivacaftor for 48 weeks.


Weight gain Growth Cystic fibrosis transmembrane conductance regulator Potentiator Bicarbonate Kalydeco 


Grant Support

This study was sponsored by Vertex Pharmaceuticals Incorporated.

Compliance with Ethical Standards

Conflict of interest

Barry Lubarsky is an employee of Vertex Pharmaceuticals Incorporated and may own stock or stock options in the company.


No honoraria or other forms of payment were made for authorship of this article. Editorial assistance for this manuscript was provided by Peloton Advantage, Parsippany, NJ, and was funded by Vertex Pharmaceuticals Incorporated.

Ethical Standards

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards. As this was a post hoc analysis, no formal patient consent is required.


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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  • Drucy Borowitz
    • 1
  • Barry Lubarsky
    • 2
  • Michael Wilschanski
    • 3
  • Anne Munck
    • 4
  • Daniel Gelfond
    • 5
  • Frank Bodewes
    • 6
  • Sarah Jane Schwarzenberg
    • 7
  1. 1.Department of PediatricsUniversity at Buffalo, State University of New York, Women and Children’s Hospital of BuffaloBuffaloUSA
  2. 2.Department of Medical AffairsVertex Pharmaceuticals IncorporatedBostonUSA
  3. 3.Department of PediatricsHadassah University HospitalJerusalemIsrael
  4. 4.Assistance publique-Hôpitaux de Paris, Hôpital Robert Debré, Paediatric Gastroenterology and Respiratory DepartmentCF CenterParisFrance
  5. 5.Department of Pediatrics, Gastroenterology/Nutrition (SMD)University of RochesterRochesterUSA
  6. 6.Department of PediatricsBeatrix Children’s HospitalGroningenThe Netherlands
  7. 7.Division of Pediatric GastroenterologyUniversity of MinnesotaMinneapolisUSA

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