SNPMiner Trials by Shray Alag

NCT00511368 (37) NCT00460382 (36) NCT04504071 (35) NCT03783286 (33) NCT04172597 (32) NCT02404233 (29) NCT00959894 (28) NCT00706147 (28) NCT00121017 (28) NCT01685801 (27) NCT04513626 (26) NCT01736761 (26) NCT04495348 (24) NCT02673398 (23) NCT02499978 (22) NCT01605084 (21) NCT04254705 (21) NCT02069834 (21) NCT00939770 (18) NCT01792570 (18) NCT01199939 (18) NCT00356616 (18) NCT02728258 (17) NCT02707601 (17) NCT02770508 (16) NCT00711009 (16) NCT00630864 (16) NCT00491556 (15) NCT04085315 (15) NCT02616029 (15) NCT00830804 (15) NCT04681820 (15) NCT01170962 (14) NCT00984152 (14) NCT03953898 (14) NCT00727597 (14) NCT03212274 (14) NCT01369199 (13) NCT00337467 (13) NCT00098293 (13) NCT01368497 (13) NCT02159599 (13) NCT00424814 (12) NCT04432454 (12) NCT02527096 (12) NCT01849003 (12) NCT03781063 (12) NCT03683524 (11) NCT01614457 (11) NCT00460746 (11) NCT00993148 (11) NCT03061331 (11) NCT02494882 (11) NCT03068312 (11) NCT04453436 (11) NCT01521338 (10) NCT02725567 (10) NCT01614470 (10) NCT01423812 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NCT02554591 (5) NCT01501604 (5) NCT02716116 (5) NCT01136460 (5) NCT00187655 (5) NCT00350272 (5) NCT00837135 (5) NCT03202862 (5) NCT01707199 (5) NCT03839342 (5) NCT01323010 (4) NCT02248324 (4) NCT01698905 (4) NCT01737359 (4) NCT01306045 (4) NCT02804100 (4) NCT01456676 (4) NCT00588172 (4) NCT03434418 (4) NCT03593993 (4) NCT01804140 (4) NCT02882308 (4) NCT03497767 (4) NCT04106024 (4) NCT02716311 (4) NCT04405674 (4) NCT03599518 (4) NCT01675778 (4) NCT01604122 (4) NCT01297777 (4) NCT04519970 (4) NCT00705679 (4) NCT04147351 (4) NCT04129502 (4) NCT03976856 (4) NCT02335944 (4) NCT04625647 (4) NCT03948763 (4) NCT03255083 (4) NCT04002830 (4) NCT02635815 (4) NCT03066206 (4) NCT01331642 (4) NCT00557245 (4) NCT01922583 (4) NCT02893332 (4) NCT03592888 (4) NCT02257424 (4) NCT03874858 (4) NCT00017732 (4) NCT00187720 (4) NCT02593539 (4) NCT01185587 (4) NCT04439292 (4) NCT03884348 (4) NCT01309243 (4) NCT03209063 (4) NCT04160546 (4) NCT03292302 (4) NCT02418234 (4) NCT02535338 (3) NCT02192697 (3) NCT03410043 (3) NCT03845296 (3) NCT02914990 (3) NCT02113813 (3) NCT01532011 (3) NCT04340388 (3) NCT00962533 (3) NCT03856411 (3) NCT04049266 (3) NCT02973763 (3) NCT02926092 (3) NCT00271973 (3) NCT04256941 (3) NCT03812809 (3) NCT02954523 (3) NCT01784068 (3) NCT03446417 (3) NCT02841579 (3) NCT02025114 (3) NCT01288521 (3) NCT01385683 (3) NCT02279004 (3) NCT00998582 (3) NCT03111901 (3) NCT01352715 (3) NCT01619774 (3) NCT01045369 (3) NCT02246998 (3) NCT03969823 (3) NCT00895596 (3) NCT02398929 (3) NCT00724711 (3) NCT04029350 (3) NCT03737994 (3) NCT01443806 (3) NCT02629822 (3) NCT03463525 (3) NCT00710112 (3) NCT03623750 (3) NCT04283955 (3) NCT02743923 (3) NCT01016106 (3) NCT01259089 (3) NCT03971474 (3) NCT02917993 (3) NCT02368990 (3) NCT00279110 (3) NCT02485652 (3) NCT00312169 (3) NCT04541407 (3) NCT02769286 (3) NCT00747487 (3) NCT04267913 (3) NCT01429597 (3) NCT04023617 (3) NCT03790228 (3) NCT01759888 (3) NCT04429152 (3) NCT01810718 (3) NCT02725632 (3) NCT01090011 (3) NCT04544111 (3) NCT02926768 (3) NCT02981108 (3) NCT02459743 (3) NCT00654823 (3) NCT01037127 (3) NCT04439305 (3) NCT01028222 (3) NCT01542411 (3) NCT01031446 (3) NCT02726269 (3) NCT01892644 (3) NCT03260491 (3) NCT01802632 (3) NCT02720094 (3) NCT02630186 (3) NCT01627132 (3) NCT02690675 (3) NCT01013506 (3) NCT04252339 (3) NCT02496663 (3) NCT03386955 (3) NCT03394118 (3) NCT04212702 (3) NCT01754025 (3) NCT01160276 (3) NCT00121979 (3) NCT03228277 (3) NCT04351555 (3) NCT01243346 (3) NCT04510415 (3) NCT02796274 (3) NCT02774005 (3) NCT02064491 (3) NCT04233021 (3) NCT03799601 (3) NCT00260260 (3) NCT02094261 (3) NCT04245085 (3) NCT03058094 (3) NCT01282151 (3) NCT02520778 (3) NCT03161808 (3) NCT04181060 (3) NCT01342679 (3) NCT01443273 (3) NCT01593254 (3) NCT04433481 (3) NCT02529995 (3) NCT03502850 (3) NCT02771314 (3) NCT03823807 (3) NCT03270527 (3) NCT02688881 (3) NCT01005602 (3) NCT02442349 (3) NCT02684591 (2) NCT02282267 (2) NCT03381430 (2) NCT02178397 (2) NCT03608215 (2) NCT02603107 (2) NCT03370770 (2) NCT03322696 (2) NCT03333343 (2) NCT00525473 (2) NCT03127449 (2) NCT01781026 (2) NCT02503722 (2) NCT00975871 (2) NCT03964233 (2) NCT03388099 (2) NCT02317016 (2) NCT03845270 (2) NCT03519958 (2) NCT03918304 (2) NCT02151721 (2) NCT02777658 (2) NCT01016444 (2) NCT02971501 (2) NCT03101254 (2) NCT03178617 (2) NCT01774721 (2) NCT03574753 (2) NCT01357655 (2) NCT01766713 (2) NCT02097225 (2) NCT00658164 (2) NCT03622593 (2) NCT02571036 (2) NCT00969137 (2) NCT00834665 (2) NCT02026011 (2) NCT03622580 (2) NCT03543683 (2) NCT01143493 (2) NCT03671538 (2) NCT04028778 (2) NCT00324961 (2) NCT01915576 (2) NCT02157883 (2) NCT01387022 (2) NCT03864042 (2) NCT03235245 (2) NCT03469960 (2) NCT02795884 (2) NCT04687241 (2) NCT00005541 (2) NCT01242813 (2) NCT03960645 (2) NCT00643058 (2) NCT03443336 (2) NCT02992860 (2) NCT02281760 (2) NCT02201602 (2) NCT04310007 (2) NCT04309019 (2) NCT03720665 (2) NCT00909532 (2) NCT00411944 (2) NCT01604681 (2) NCT01245062 (2) NCT00270231 (2) NCT03256136 (2) NCT03973918 (2) NCT00302692 (2) NCT00125281 (2) NCT02163733 (2) NCT02110407 (2) NCT00475176 (2) NCT03196882 (2) NCT01572818 (2) NCT02556333 (2) NCT04268550 (2) NCT02433717 (2) NCT03428126 (2) NCT01153763 (2) NCT02609776 (2) NCT01420211 (2) NCT03556176 (2) NCT03872440 (2) NCT01405079 (2) NCT03382795 (2) NCT02991950 (2) NCT00013598 (2) NCT03455764 (2) NCT02422628 (2) NCT03831932 (2) NCT03766490 (2) NCT02580474 (2) NCT00499577 (2) NCT02444884 (2) NCT01775943 (2) NCT03544814 (2) NCT01310036 (2) NCT01027663 (2) NCT01928160 (2) NCT01244438 (2) NCT00007150 (2) NCT04462081 (2) NCT02297425 (2) NCT02086071 (2) NCT01050400 (2) NCT03060590 (2) NCT01819428 (2) NCT02709668 (2) NCT02411448 (2) NCT03878719 (2) NCT04622072 (2) NCT04479306 (2) NCT03377023 (2) NCT01378026 (2) NCT03239145 (2) NCT04511533 (2) NCT00226551 (2) NCT02191891 (2) NCT04586270 (2) NCT04669535 (2) NCT04545710 (2) NCT02120222 (2) NCT02738593 (2) NCT00831272 (2) NCT04469543 (2) NCT00573495 (2) NCT04158544 (2) NCT00904150 (2) NCT02110056 (2) NCT02856893 (2) NCT02110043 (2) NCT02182986 (2) NCT04179890 (2) NCT00063232 (2) NCT02197234 (2) NCT03121235 (2) NCT01532089 (2) NCT03887169 (2) NCT02268864 (2) NCT01963845 (2) NCT00866736 (2) NCT03991013 (2) NCT02500927 (2) NCT04657991 (2) NCT02228382 (2) NCT02689570 (2) NCT01513785 (2) NCT02463435 (2) NCT03351361 (2) NCT04527549 (2) NCT03424759 (2) NCT02197247 (2) NCT02321046 (2) NCT04272034 (2) NCT04646824 (2) NCT04027647 (2) NCT02364609 (2) NCT02759835 (2) NCT04349865 (2) NCT00068159 (2) NCT00418015 (2) NCT04310397 (2) NCT03088176 (2) NCT03867175 (2) NCT00339209 (2) NCT00011258 (2) NCT01288430 (2) NCT01616199 (2) NCT03603262 (2) NCT03071705 (2) NCT00969930 (2) NCT00772408 (2) NCT02743468 (2) NCT00277342 (2) NCT04248829 (2) NCT01767454 (2) NCT00933127 (2) NCT03317873 (2) NCT03392246 (2) NCT01909453 (2) NCT03523104 (2) NCT00085917 (2) NCT02507921 (2) NCT03781752 (2) NCT03828422 (2) NCT02193282 (2) NCT03195452 (2) NCT04657289 (2) NCT02294487 (2) NCT01325441 (2) NCT02511106 (2) NCT02997501 (2) NCT04184921 (2) NCT00625092 (2) NCT01657786 (2) NCT01415011 (2) NCT02629523 (2) NCT01718847 (2) NCT02818023 (2) NCT00577707 (2) NCT01943422 (2) NCT00116636 (2) NCT04429542 (2) NCT01841463 (2) NCT03865511 (2) NCT03205267 (2) NCT01218477 (2) NCT02881320 (2) NCT01897480 (2) NCT02810990 (2) NCT04189757 (2) NCT01951001 (2) NCT04254939 (2) NCT03207867 (2) NCT00780949 (2) NCT03355768 (2) NCT00817089 (2) NCT02143466 (2) NCT04499053 (2) NCT01907776 (2) NCT00909727 (2) NCT01562028 (2) NCT03737253 (2) NCT00441974 (2) NCT02155465 (2) NCT04586335 (2) NCT00661999 (2) NCT02705339 (2) NCT04006340 (2) NCT04553887 (2) NCT04645225 (2) NCT03852290 (2) NCT02183922 (2) NCT03970239 (2) NCT00294372 (2) NCT03250676 (2) NCT03792074 (2) NCT00671892 (2) NCT00689182 (2) NCT00106379 (2) NCT01947023 (2) NCT00509652 (2) NCT03683251 (2) NCT02039986 (2) NCT03515837 (2) NCT04081688 (2) NCT03190005 (2) NCT01584648 (2) NCT02292654 (2) NCT03992456 (2) NCT03133546 (2) NCT01485809 (2) NCT01266967 (2) NCT04644315 (2) NCT02909712 (2) NCT00062764 (2) NCT01776684 (2) NCT03042221 (2) NCT01940809 (2) NCT04675008 (2) NCT01161537 (2) NCT01154816 (2) NCT01175759 (2) NCT01199731 (2) NCT02788058 (2) NCT03130452 (2) NCT04687423 (2) NCT01772732 (2) NCT02631447 (2) NCT02525692 (2) NCT02526537 (2) NCT03513666 (2) NCT02027961 (2) NCT03106779 (2) NCT04106544 (2) NCT04258943 (2) NCT00165984 (2) NCT00977470 (2) NCT02092974 (2) NCT03975231 (2) NCT03586453 (2) NCT01998295 (2) NCT02021305 (2) NCT03135197 (2) NCT00432016 (2) NCT04636437 (2) NCT03004625 (2) NCT03851445 (2) NCT04031898 (2) NCT04201418 (2) NCT01911507 (2) NCT03539224 (2) NCT01978236 (2) NCT00866177 (2) NCT00320879 (2) NCT00044304 (2) NCT01999179 (2) NCT00977730 (2) NCT02491775 (2) NCT00212147 (2) NCT02040064 (2) NCT00489385 (2) NCT01713023 (2) NCT04122729 (2) NCT03994393 (2) NCT02438722 (2) NCT02762448 (2) NCT00071903 (2) NCT00626223 (2) NCT01193829 (2) NCT03239340 (2) NCT02991274 (2) NCT02811354 (2) NCT03416530 (2) NCT02522988 (2) 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NCT03678506 (1) NCT02146365 (1) NCT04310943 (1) NCT02619955 (1) NCT02934139 (1) NCT00400387 (1) NCT00375219 (1) NCT00149305 (1) NCT03520946 (1) NCT02787447 (1) NCT04501614 (1) NCT03166631 (1) NCT04213313 (1) NCT02078531 (1) NCT02349048 (1) NCT02981784 (1) NCT04636593 (1) NCT01647711 (1) NCT03231722 (1) NCT03576937 (1) NCT04412070 (1) NCT00554866 (1) NCT03151161 (1) NCT01817166 (1) NCT02220855 (1) NCT02512627 (1) NCT04591197 (1) NCT03402048 (1) NCT04500704 (1) NCT02323724 (1) NCT01166126 (1) NCT03029858 (1) NCT04317599 (1) NCT00300573 (1) NCT00809211 (1) NCT01393730 (1) NCT02318368 (1) NCT02228369 (1) NCT04500717 (1) NCT01074398 (1) NCT03134131 (1) NCT02455167 (1) NCT01004497 (1) NCT02073279 (1) NCT02117817 (1) NCT00323687 (1) NCT01605981 (1) NCT01371955 (1) NCT04147767 (1) NCT04144257 (1) NCT03490123 (1) NCT04423185 (1) NCT02625337 (1) NCT03567629 (1) NCT03360929 (1) NCT00109278 (1) NCT04108156 (1) NCT02132598 (1) NCT00542451 (1) NCT01587573 (1) NCT00868465 (1) NCT01494402 (1) 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SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT03659214

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

Impact of the Introduction of ORKAMBI on Anxiety, Depression, Quality of Life and Adherence of Adolescents and Young Adults

The aim of this project is to evaluate the psychological reshuffle induced by ORKAMBI. The particular focus of this study is the consequence of its introduction on anxiety, depression, quality of life and adherence to all cystic fibrosis (CF) treatment. To answer this question investigators will monitor the psychological function of CF adolescents and young adults treated with ORKAMBI and compare them to CF adolescents and young adults not treated with ORKAMBI.

NCT03659214 Cystic Fibrosis
MeSH:Cystic Fibrosis Fibrosis Depression

1 Interventions

Name: Questionnaires

Description: Answering 4 questionnaires : anxiety, depression, quality of life and adherence
Type: Behavioral
Group Labels: 2

Control group Treated group


Primary Outcomes

Description: to assess the impact on Anxiety

Measure: Score of Generalized Anxiety Disorder-7 questionnaire (GAD-7)

Time: 24 months

Secondary Outcomes

Description: To assess the impact on Depression

Measure: Score of Patient Health Questionnaire-9 (PHQ-9 )

Time: 24 months

Description: Disease-specific instrument designed to measure impact on overall health, daily life, perceived well-being and symptoms (Quality of Life)

Measure: Scores of Cystic Fibrosis Questionnaire 14+ (CFQ 14+)

Time: 24 months

Description: The 6 items are assessed using a YES/NO answer .The scale was validated in patients with chronic disease to assess medication adherence

Measure: GIRERD Scale

Time: 24 months

Time Perspective: Retrospective

Cohort


There are 8 SNPs

SNPs


1 G1244E

Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Cystic Fibrosis Cystic Fibrosis Fibrosis Depression Introduction of KALYDECO then ORKAMBI, as a personalized medicine in the therapeutic strategy of Cystic Fibrosis (CF) may deeply modify the prognosis of patients with CF. --- G551D --- --- G178R --- --- S549N --- --- S549R --- --- G551S --- --- G1244E ---

Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Cystic Fibrosis Cystic Fibrosis Fibrosis Depression Introduction of KALYDECO then ORKAMBI, as a personalized medicine in the therapeutic strategy of Cystic Fibrosis (CF) may deeply modify the prognosis of patients with CF. --- G551D --- --- G178R --- --- S549N --- --- S549R --- --- G551S --- --- G1244E --- --- S1255P --- --- G1349D --- --- G551D --- --- G178R --- --- S549N --- --- S549R --- --- G551S --- --- G1244E ---


2 G1349D

Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Cystic Fibrosis Cystic Fibrosis Fibrosis Depression Introduction of KALYDECO then ORKAMBI, as a personalized medicine in the therapeutic strategy of Cystic Fibrosis (CF) may deeply modify the prognosis of patients with CF. --- G551D --- --- G178R --- --- S549N --- --- S549R --- --- G551S --- --- G1244E --- --- S1255P --- --- G1349D ---

Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Cystic Fibrosis Cystic Fibrosis Fibrosis Depression Introduction of KALYDECO then ORKAMBI, as a personalized medicine in the therapeutic strategy of Cystic Fibrosis (CF) may deeply modify the prognosis of patients with CF. --- G551D --- --- G178R --- --- S549N --- --- S549R --- --- G551S --- --- G1244E --- --- S1255P --- --- G1349D --- --- G551D --- --- G178R --- --- S549N --- --- S549R --- --- G551S --- --- G1244E --- --- S1255P --- --- G1349D ---


3 G178R

Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Cystic Fibrosis Cystic Fibrosis Fibrosis Depression Introduction of KALYDECO then ORKAMBI, as a personalized medicine in the therapeutic strategy of Cystic Fibrosis (CF) may deeply modify the prognosis of patients with CF. --- G551D --- --- G178R ---

Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Cystic Fibrosis Cystic Fibrosis Fibrosis Depression Introduction of KALYDECO then ORKAMBI, as a personalized medicine in the therapeutic strategy of Cystic Fibrosis (CF) may deeply modify the prognosis of patients with CF. --- G551D --- --- G178R --- --- S549N --- --- S549R --- --- G551S --- --- G1244E --- --- S1255P --- --- G1349D --- --- G551D --- --- G178R ---


4 G551D

Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Cystic Fibrosis Cystic Fibrosis Fibrosis Depression Introduction of KALYDECO then ORKAMBI, as a personalized medicine in the therapeutic strategy of Cystic Fibrosis (CF) may deeply modify the prognosis of patients with CF. --- G551D ---

Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Cystic Fibrosis Cystic Fibrosis Fibrosis Depression Introduction of KALYDECO then ORKAMBI, as a personalized medicine in the therapeutic strategy of Cystic Fibrosis (CF) may deeply modify the prognosis of patients with CF. --- G551D --- --- G178R --- --- S549N --- --- S549R --- --- G551S --- --- G1244E --- --- S1255P --- --- G1349D --- --- G551D ---


5 G551S

Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Cystic Fibrosis Cystic Fibrosis Fibrosis Depression Introduction of KALYDECO then ORKAMBI, as a personalized medicine in the therapeutic strategy of Cystic Fibrosis (CF) may deeply modify the prognosis of patients with CF. --- G551D --- --- G178R --- --- S549N --- --- S549R --- --- G551S ---

Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Cystic Fibrosis Cystic Fibrosis Fibrosis Depression Introduction of KALYDECO then ORKAMBI, as a personalized medicine in the therapeutic strategy of Cystic Fibrosis (CF) may deeply modify the prognosis of patients with CF. --- G551D --- --- G178R --- --- S549N --- --- S549R --- --- G551S --- --- G1244E --- --- S1255P --- --- G1349D --- --- G551D --- --- G178R --- --- S549N --- --- S549R --- --- G551S ---


6 S1255P

Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Cystic Fibrosis Cystic Fibrosis Fibrosis Depression Introduction of KALYDECO then ORKAMBI, as a personalized medicine in the therapeutic strategy of Cystic Fibrosis (CF) may deeply modify the prognosis of patients with CF. --- G551D --- --- G178R --- --- S549N --- --- S549R --- --- G551S --- --- G1244E --- --- S1255P ---

Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Cystic Fibrosis Cystic Fibrosis Fibrosis Depression Introduction of KALYDECO then ORKAMBI, as a personalized medicine in the therapeutic strategy of Cystic Fibrosis (CF) may deeply modify the prognosis of patients with CF. --- G551D --- --- G178R --- --- S549N --- --- S549R --- --- G551S --- --- G1244E --- --- S1255P --- --- G1349D --- --- G551D --- --- G178R --- --- S549N --- --- S549R --- --- G551S --- --- G1244E --- --- S1255P ---


7 S549N

Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Cystic Fibrosis Cystic Fibrosis Fibrosis Depression Introduction of KALYDECO then ORKAMBI, as a personalized medicine in the therapeutic strategy of Cystic Fibrosis (CF) may deeply modify the prognosis of patients with CF. --- G551D --- --- G178R --- --- S549N ---

Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Cystic Fibrosis Cystic Fibrosis Fibrosis Depression Introduction of KALYDECO then ORKAMBI, as a personalized medicine in the therapeutic strategy of Cystic Fibrosis (CF) may deeply modify the prognosis of patients with CF. --- G551D --- --- G178R --- --- S549N --- --- S549R --- --- G551S --- --- G1244E --- --- S1255P --- --- G1349D --- --- G551D --- --- G178R --- --- S549N ---


8 S549R

Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Cystic Fibrosis Cystic Fibrosis Fibrosis Depression Introduction of KALYDECO then ORKAMBI, as a personalized medicine in the therapeutic strategy of Cystic Fibrosis (CF) may deeply modify the prognosis of patients with CF. --- G551D --- --- G178R --- --- S549N --- --- S549R ---

Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Inclusion Criteria: - Treated group: Patients with proven CF (sweat-test > 60 mEq, 2 DF508 CF causing mutations, 12 to 20 years, and treated with ORKAMBI - Control group: Patients not carrying 2 DF508 CF causing mutations, not treated with ORKAMBI, and not carrying the G551D, G178R, S549N, S549R, G551S, G1244E,S1251N, S1255P or G1349D mutation or treated with Kalydeco Exclusion Criteria: - Transplanted patients - Patients younger than 12 years - Patients older than 20 years Cystic Fibrosis Cystic Fibrosis Fibrosis Depression Introduction of KALYDECO then ORKAMBI, as a personalized medicine in the therapeutic strategy of Cystic Fibrosis (CF) may deeply modify the prognosis of patients with CF. --- G551D --- --- G178R --- --- S549N --- --- S549R --- --- G551S --- --- G1244E --- --- S1255P --- --- G1349D --- --- G551D --- --- G178R --- --- S549N --- --- S549R ---



HPO Nodes