The Future of CF Therapy

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1 The Future of CF Therapy Peter J. Mogayzel, Jr., M.D., Ph.D. Eudowood Division of Pediatric Respiratory Sciences The Johns Hopkins School of Medicine

2 Overview The Future of CF Therapy Personalized therapy Making a difference today Genes are not the whole story Partnership Patients, families and the care team

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4 Johns Hopkins CF Center Patients pedatrics adult

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9 CFTR Mutations Normal I II III IV V No synthesis Block in processing Block in regulation Altered conductance Reduced synthesis Prevalence G542X W1282X R553X F508del N1303K I507del G551D G178R G551S R117H R347P R117C kbC >T G/A 5T 12% 87% 5% 5% 5%

10 Class 3 CFTR Mutation Normal I II III IV V No synthesis Block in processing Block in regulation Altered conductance Reduced synthesis Prevalence G542X W1282X R553X F508del N1303K I507del G551D G178R G551S R117H R347P R117C kbC >T G/A 5T 12% 87% 5% 5% 5% IVACAFTOR

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12 Ivacaftor STRIVE Study Ramsey BW et al. N Engl J Med 2011;365:

13 Ivacaftor STRIVE Study Ramsey BW et al. N Engl J Med 2011;365:

14 Goal Study Lung Function Vertex 103, N=26 + * Phase 3 GOAL Mean FEV 1 (% Predicted) & 95% CI ** ** GOAL 12+, N=113 Vertex 102, N=80 AGE <12 AGE 12 Month + p < 0.05 *p < 0.01 **p < 0.01 Month

15 Change in Hospitalization with Ivacaftor ** ** Percent Hospitalized & 95% CI Number of months pre/post Ivacaftor start date N: **p < Wilcoxon sign test

16 Change in P. aeruginosa Culture Rate Percent with Pseudomonas Aeruginosa & 95% CI ** * Number of months pre/post Ivacaftor start date N: *p < 0.01 **p < Wilcoxon sign test

17 G551D G178R S549N S549R G551S G1244E S1251N S1255P G1349D

18 Class 4 and 5 of CFTR Mutations Normal I II III IV V No synthesis Block in processing Block in regulation Altered conductance Reduced synthesis Prevalence G542X W1282X R553X F508del N1303K I507del G551D G178R G551S R117H R347P R117C kbC >T G/A 5T 12% 87% 5% 5% 5% IVACAFTOR

19 Ivacaftor and R117H Ivacaftor (n=24) Placebo (n=26) Treatment Difference Mean Absolute Change in FEV1* 4.5 (p=0.002) 0.5 (p=0.728) 5.0 (p=0.01) Mean Relative Change in FEV1 7.7 (p=0.002) 1.5 (p=0.526) 9.1 (p=0.008) 50 adults 24 weeks

20 Class 2 CFTR Mutation Normal I II III IV V No synthesis Block in processing Block in regulation Altered conductance Reduced synthesis Prevalence G542X W1282X R553X F508del N1303K I507del G551D G178R G551S R117H R347P R117C kbC >T G/A 5T 12% 87% 5% 5% 5%

21 Combination Approach: Ivacaftor and Lumacaftor (VX 809) F508del CFTR CFTR corrector CFTR potentiator F508del-CFTR Activity (% wt-cftr) Lumacaftor + Ivacaftor Lumacaftor alone Log M [VX-809] Van Goor et al. Pediatr Pulmonol 2009;44(S32):154

22 Ivacaftor and Lumacaftor (VX-809) F508del homozygotes Monotherapy VX mg qd VX mg qd VX mg qd Placebo Combination VX mg qd + ivacaftor 250 mg q12h VX mg qd + ivacaftor 250 mg q12h VX mg qd + ivacaftor 250 mg q12h Placebo + Placebo Day 21 Day 0 Day 14 Day 28 Day 42 Day 56 NACFC October 2012

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24 VX-661

25 VX-661 & Ivacaftor

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27 Class 1 CFTR Mutation Normal I II III IV V No synthesis Block in processing Block in regulation Altered conductance Reduced synthesis Prevalence G542X W1282X R553X F508del N1303K I507del G551D G178R G551S R117H R347P R117C kbC >T G/A 5T 12% 87% 5% 5% 5%

28 Ataluren (PTC 124) 48 week double blind, placebo controlled trial Ataluren or placebo TID Key inclusion criteria Nonsense mutation, >6 years old, FEV % 238 patients enrolled at 36 centers in Europe, Israel, North America Primary outcome: FEV 1 at 48 weeks Secondary outcomes Exacerbations cough frequency chest CT QOL NPD NACFC 2012 Abstract 193

29 Ataluren No Inhaled Antibiotics Week 48 = 6.7% p = 0.013* Any Inhaled Antibiotics Week 48 = 0.0% p = 0.88* Change in %-Predicted FEV 1, Mean BL Ataluren (N=52) Placebo (N=53) % = 6.7% -6.9% BL Ataluren (N=64) Placebo (N=63) % -4.4% Time, weeks Time, weeks NACFC 2012 Abstract 193

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32 It s not all about CFTR Lung Function (FEV1 %) Normal Lung Function n = Severe Lung Disease Age (Years) Unpublished Data Courtesy of M. Collaco

33 Best Lung Function in a Pair of Identical Twins FEV1 % Predicted Both move away from home and live apart for the first time Age (Years) Courtesy of M. Collaco

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35 Contributions to CF Lung Disease Collaco et al. J Pediatr. 2010;157(5):802 7

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37 Partnership and Expectations Cystic Fibrosis Foundation Goals

38 Goal #1 People with CF and their families will be full members of the care team. Communication will be open so everyone can be involved in care decisions. Care will be respectful of the person with CF s needs, preferences and values.

39 Be Part of the Team Maximize Your Time in Clinic Prepare for the visit Key Questions Ideas you may have about improving care Ask your child about issues Understand the data Lung Function Weight/BMI Microbiology Genetics Key Labs and X rays

40 Goal #2 Children, adolescents and adults with CF will have normal growth and nutrition.

41 CFF Patient Registry 2012

42 CFF Patient Registry 2012

43 Goal #3 People with CF will receive appropriate therapies for maintaining lung function. Pulmonary exacerbations will be detected early and treated aggressively to return people with CF to their previous levels of lung function

44 Effect of Exacerbations on Lung Function CFF Registry n=8,400 Sanders et al. Pediatr Pulmonol. 2010

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46 Adherence N=95 Eakin et al. J Cyst Fibros. 2011;10(4):258 64

47 Impact of Nonadherence Courses of IVs Composite MPR Courses of IVs Eakin et al. J Cyst Fibros. 2011;10(4):258 64

48 Impact of Nonadherence Lung Function FEV 1 % Predicted MPR = % n = 28 MPR =50-80 % n = 31 MPR <50% n = % -2.22% -0.39% Quarter 1 Quarter 4 Time Eakin et al. J Cyst Fibros. 2011;10(4):258 64

49 Adherence There can be many barriers to adherence Understanding Anxiety/Fear Financial Behavioral issues School/Work/Other events Stigmata Be honest with the care team

50 Benchmarking Centers with the best outcomes Use antibiotics aggressively Have higher expectations Do not tolerate lung function decline

51 Final Thoughts Cystic fibrosis care is complex Patient, families and the care team working together can improve the outcome of individuals with CF with current therapies The future holds the promise of new therapies that will change the course of the disease Future therapies will not reverse damage Appropriate expectations, aggressive therapy and prevention are key

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