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

Digestive Diseases and Sciences

Volumn 61, Issue 1, 2016, Pages 198-207

  Borowitz, Drucy ^a   Lubarsky, Barry ^b   Wilschanski, Michael ^c   Munck, Anne ^d   Gelfond, Daniel ^e   Bodewes, Frank ^f   Schwarzenberg, Sarah Jane ^g  

^a UNIVERSITY AT BUFFALO   (United States)

^b VERTEX PHARMACEUTICALS   (United States)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^f UNIVERSITY OF GRONINGEN   (Netherlands)

^g UNIVERSITY OF MINNESOTA   (United States)

Author keywords

Bicarbonate; Cystic fibrosis transmembrane conductance regulator; Growth; Kalydeco; Potentiator; Weight gain

Indexed keywords

AGENTS AFFECTING WATER, MOLECULE OR ION TRANSPORT; AMINOPHENOL DERIVATIVE; CFTR PROTEIN, HUMAN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; IVACAFTOR; QUINOLONE DERIVATIVE;

ADOLESCENT; ADULT; AGONISTS; CHILD; CLINICAL TRIAL; CONTROLLED STUDY; CYSTIC FIBROSIS; DOUBLE BLIND PROCEDURE; DRUG ADMINISTRATION; DRUG EFFECTS; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; MALE; METABOLISM; MULTICENTER STUDY; MUTATION; NUTRITIONAL STATUS; ORAL DRUG ADMINISTRATION; PATHOPHYSIOLOGY; PHASE 3 CLINICAL TRIAL; PHENOTYPE; QUESTIONNAIRE; RANDOMIZED CONTROLLED TRIAL; TIME FACTOR; TREATMENT OUTCOME; WEIGHT GAIN; YOUNG ADULT;

ADMINISTRATION, ORAL; ADOLESCENT; ADULT; AMINOPHENOLS; CHILD; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DOUBLE-BLIND METHOD; DRUG ADMINISTRATION SCHEDULE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MEMBRANE TRANSPORT MODULATORS; MUTATION; NUTRITIONAL STATUS; PHENOTYPE; QUINOLONES; SURVEYS AND QUESTIONNAIRES; TIME FACTORS; TREATMENT OUTCOME; WEIGHT GAIN; YOUNG ADULT;

EID: 84952984788     PISSN: 01632116     EISSN: 15732568     Source Type: Journal    
DOI: 10.1007/s10620-015-3834-2     Document Type: Article

References (42)

1. O’Sullivan BP, Freedman SD. Cystic fibrosis. Lancet. 2009;373:1891–1904.
2. Rowe SM, Miller S, Sorscher EJ. Cystic fibrosis. N Engl J Med. 2005;352:1992–2001.
3. Cystic Fibrosis Registry of Ireland 2012 Annual Report. Dublin, Ireland: Cystic Fibrosis Registry of Ireland; 2014.
4. Van Goor F, Hadida S, Grootenhuis PD, et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc Natl Acad Sci USA. 2009;106:18825–18830.
5. Davies JC, Wainwright CE, Canny GJ, et al. Efficacy and safety of ivacaftor in patients aged 6 to 11 years with cystic fibrosis with a G551D mutation. Am J Respir Crit Care Med. 2013;187:1219–1225.
6. Ramsey BW, Davies J, McElvaney NG, et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med. 2011;365:1663–1672.
7. Stallings VA, Stark LJ, Robinson KA, Feranchak AP, Quinton H. Evidence-based practice recommendations for nutrition-related management of children and adults with cystic fibrosis and pancreatic insufficiency: results of a systematic review. J Am Diet Assoc. 2008;108:832–839.
8. Modi AC, Quittner AL. Validation of a disease-specific measure of health-related quality of life for children with cystic fibrosis. J Pediatr Psychol. 2003;28:535–545.
9. Quittner AL, Buu A, Messer MA, Modi AC, Watrous M. Development and validation of The Cystic Fibrosis Questionnaire in the United States: a health-related quality-of-life measure for cystic fibrosis. Chest. 2005;128:2347–2354.
10. Sproul A, Huang N. Growth patterns in children with cystic fibrosis. J Pediatr. 1964;65:664–676.
11. Yen EH, Quinton H, Borowitz D. Better nutritional status in early childhood is associated with improved clinical outcomes and survival in patients with cystic fibrosis. J Pediatr. 2013;162:530–535.
12. McKone EF, Borowitz D, Drevinek P, et al. Long-term safety and efficacy of ivacaftor in patients with cystic fibrosis who have the Gly551Asp-CFTR mutation: a phase 3, open-label extension study (PERSIST). Lancet Respir Med. 2014;2:902–910.
13. Hayes D Jr, McCoy KS, Sheikh SI. Improvement of sinus disease in cystic fibrosis with ivacaftor therapy. Am J Respir Crit Care Med. 2014;190:468.
14. Rowe SM, Heltshe SL, Gonska T, et al. Clinical mechanism of the cystic fibrosis transmembrane conductance regulator potentiator ivacaftor in G551D-mediated cystic fibrosis. Am J Respir Crit Care Med. 2014;190:175–184.
15. Magoffin A, Allen JR, McCauley J, et al. Longitudinal analysis of resting energy expenditure in patients with cystic fibrosis. J Pediatr. 2008;152:703–708.
16. Tomezsko JL, Stallings VA, Kawchak DA, Goin JE, Diamond G, Scanlin TF. Energy expenditure and genotype of children with cystic fibrosis. Pediatr Res. 1994;35:451–460.
17. Kalnins D, Pencharz PB, Grasemann H, Solomon M. Energy expenditure and nutritional status in pediatric patients before and after lung transplantation. J Pediatr. 2013;163:1500–1502.
18. Quinton PM. Cystic fibrosis: impaired bicarbonate secretion and mucoviscidosis. Lancet. 2008;372:415–417.
19. Clarke LL, Harline MC. Dual role of CFTR in cAMP-stimulated. Am J Physiol. 1998;274:G718–G726.
20. Ishiguro H, Yamamoto A, Nakakuki M, et al. Physiology and pathophysiology of bicarbonate secretion by pancreatic duct epithelium. Nagoya J Med Sci. 2012;74:1–18.
21. Smith JJ, Welsh MJ. cAMP stimulates bicarbonate secretion across normal, but not cystic fibrosis airway epithelia. J Clin Invest. 1992;89:1148–1153.
22. Li L, Somerset S. Digestive system dysfunction in cystic fibrosis: challenges for nutrition therapy. Dig Liver Dis. 2014;46:865–874.
23. Weber AM, Roy CC. Intraduodenal events in cystic fibrosis. J Pediatr Gastroenterol Nutr. 1984;3:S113–S119.
24. Gustafsson JK, Ermund A, Ambort D, et al. Bicarbonate and functional CFTR channel are required for proper mucin secretion and link cystic fibrosis with its mucus phenotype. J Exp Med. 2012;209:1263–1272.
25. Alaiwa A, Reznikov LR, Gansemer ND, Zabner J, Welsh MJ. pH modulates the antimicrobial activity of beta defensin-3 (BD-3) [abstract 91]. Pediatr Pulmonol. 2013;48:237.
26. Lai Y, Gallo RL. AMPed up immunity: how antimicrobial peptides have multiple roles in immune defense. Trends Immunol. 2009;30:131–141.
27. Gelfond D, Ma C, Semler J, Borowitz D. Intestinal pH and gastrointestinal transit profiles in cystic fibrosis patients measured by wireless motility capsule. Dig Dis Sci. 2013;58:2275–2281.
28. Borowitz D, Baker SS, Duffy L, et al. Use of fecal elastase-1 to classify pancreatic status in patients with cystic fibrosis. J Pediatr. 2004;145:322–326.
29. Durie PR, Forstner GG. Pathophysiology of the exocrine pancreas in cystic fibrosis. J R Soc Med. 1989;82:2–10.
30. Walkowiak J, Herzig KH, Strzykala K, Przyslawski J, Krawczynski M. Fecal elastase-1 is superior to fecal chymotrypsin in the assessment of pancreatic involvement in cystic fibrosis. Pediatrics. 2002;110:e7.
31. Marino CR, Matovcik LM, Gorelick FS, Cohn JA. Localization of the cystic fibrosis transmembrane conductance regulator in pancreas. J Clin Invest. 1991;88:712–716.
32. Davies JC, Robertson S, Green Y, Rosenfeld M. An open-label study of the safety, pharmacokinetics, and pharmacodynamics of ivacaftor in patients aged 2 to 5 years with CF and a CFTR gating mutation: the KIWI study [poster 200] [abstract]. Presented at the Atlanta, GA, October 9–11, 2014, Annual North American Conference of the Cystic Fibrosis Foundation. 2014.
33. Kalivianakis M, Minich DM, Bijleveld CM, et al. Fat malabsorption in cystic fibrosis patients receiving enzyme replacement therapy is due to impaired intestinal uptake of long-chain fatty acids. Am J Clin Nutr. 1999;69:127–134.
34. Wouthuyzen-Bakker M, Bodewes FA, Verkade HJ. Persistent fat malabsorption in cystic fibrosis; lessons from patients and mice. J Cyst Fibros. 2011;10:150–158.
35. De Lisle RC, Borowitz D. The cystic fibrosis intestine. Cold Spring Harb Perspect Med. 2013;3:a009753.
36. van der Doef HP, Kokke FT, Beek FJ, Woestenenk JW, Froeling SP, Houwen RH. Constipation in pediatric cystic fibrosis patients: an underestimated medical condition. J Cyst Fibros. 2010;9:59–63.
37. Murphy JL, Wootton SA. Nutritional management in cystic fibrosis—an alternative perspective in gastrointestinal function. Disabil Rehabil. 1998;20:226–234.
38. Fridge JL, Conrad C, Gerson L, Castillo RO, Cox K. Risk factors for small bowel bacterial overgrowth in cystic fibrosis. J Pediatr Gastroenterol Nutr. 2007;44:212–218.
39. Hoffman LR, Pope CE, Hayden HS, et al. Escherichia coli dysbiosis correlates with gastrointestinal dysfunction in children with cystic fibrosis. Clin Infect Dis. 2014;58:396–399.
40. Bellin MD, Laguna T, Leschyshyn J, et al. Insulin secretion improves in cystic fibrosis following ivacaftor correction of CFTR: a small pilot study. Pediatr Diabetes. 2013;14:417–421.
41. Hayes D Jr, McCoy KS, Sheikh SI. Resolution of cystic fibrosis-related diabetes with ivacaftor therapy. Am J Respir Crit Care Med. 2014;190:590–591.
42. Fogarty AW, Britton J, Clayton A, Smyth AR. Are measures of body habitus associated with mortality in cystic fibrosis? Chest. 2012;142:712–717.