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) NCT01170962 (14) NCT00984152 (14) NCT03953898 (14) NCT00727597 (14) NCT03212274 (14) NCT00337467 (13) NCT00098293 (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) NCT01614470 (10) NCT01423812 (10) NCT00358917 (10) NCT04415268 (10) NCT00511381 (10) NCT03911713 (9) NCT02742519 (9) NCT02725567 (9) NCT03045523 (9) NCT00438152 (9) NCT01102972 (9) NCT02971839 (9) NCT00740064 (9) NCT02605954 (9) NCT00379405 (9) NCT01562847 (9) NCT02616783 (9) NCT04272242 (9) NCT02445053 (9) NCT00242840 (9) NCT02724527 (9) NCT04209465 (9) NCT04585737 (8) NCT02082977 (8) NCT00112775 (8) NCT00383318 (8) NCT03659214 (8) NCT03631732 (8) NCT00118898 (8) NCT01888562 (8) NCT02633189 (8) NCT03565692 (8) NCT03843775 (8) NCT01161576 (8) NCT02167165 (8) NCT00344461 (8) NCT04519398 (7) NCT02154490 (7) NCT03232892 (7) NCT00650832 (7) NCT04549025 (7) NCT00440947 (7) NCT02784639 (7) NCT03572140 (6) NCT01237444 (6) NCT00532168 (6) NCT01102569 (6) NCT04424368 (6) NCT01414985 (6) NCT00525733 (6) NCT02308332 (6) NCT01487265 (6) NCT00049933 (5) NCT02389920 (5) NCT03351699 (5) NCT04197934 (5) NCT02272998 (5) NCT00122590 (5) NCT04204330 (5) NCT02450591 (5) NCT01173029 (5) NCT02675829 (5) NCT02858921 (5) NCT01914484 (5) NCT00187733 (5) 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) 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) NCT01282151 (3) NCT03058094 (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) NCT02282267 (2) NCT02684591 (2) NCT03381430 (2) NCT02178397 (2) NCT03608215 (2) NCT02603107 (2) NCT03370770 (2) NCT03322696 (2) NCT00525473 (2) NCT03333343 (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) NCT00834665 (2) NCT00969137 (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) NCT00005541 (2) NCT01242813 (2) NCT02906020 (2) NCT03960645 (2) NCT00643058 (2) NCT03443336 (2) NCT02992860 (2) NCT02281760 (2) NCT02201602 (2) NCT04310007 (2) NCT03720665 (2) NCT04309019 (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) NCT04479306 (2) NCT03377023 (2) NCT01378026 (2) NCT00226551 (2) NCT03239145 (2) NCT04511533 (2) NCT02191891 (2) NCT04586270 (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) NCT03977194 (2) NCT03991013 (2) NCT02500927 (2) NCT02228382 (2) NCT02689570 (2) NCT01513785 (2) NCT02463435 (2) NCT03351361 (2) NCT04527549 (2) NCT03424759 (2) NCT02197247 (2) NCT02321046 (2) NCT04272034 (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) 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) NCT01841463 (2) NCT04429542 (2) NCT03865511 (2) NCT01218477 (2) NCT03205267 (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) 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) NCT02909712 (2) NCT00062764 (2) NCT01776684 (2) NCT03042221 (2) NCT01940809 (2) NCT01161537 (2) NCT01154816 (2) NCT01175759 (2) NCT01199731 (2) NCT02788058 (2) NCT03130452 (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) NCT01998295 (2) NCT03586453 (2) NCT02021305 (2) NCT03135197 (2) NCT00432016 (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) NCT00953706 (2) NCT02346955 (2) NCT03795688 (2) NCT02011945 (2) NCT00857675 (2) NCT00028262 (2) NCT02355431 (2) NCT02495233 (2) NCT04575415 (2) NCT03468985 (2) NCT00230087 (2) NCT02017600 (2) NCT04146298 (2) 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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) NCT01074398 (1) NCT04500717 (1) NCT03134131 (1) NCT01004497 (1) NCT02455167 (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) NCT00867139 (1) NCT03363139 (1) NCT01936051 (1) NCT02341131 (1) NCT00037076 (1) NCT00582907 (1) NCT02169869 (1) NCT03284684 (1) NCT04204473 (1) NCT01074359 (1) NCT01400191 (1) NCT04530565 (1) NCT03530319 (1) NCT04146402 (1) NCT02658682 (1) NCT04241835 (1) NCT03133234 (1) 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SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT02025829

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

The Role of IL-17 Neutrophils in CF Lung Inflammation

The purpose of this study is to determine whether IL-17 polymorphonuclear leukocytes (PMNs) are central to the disease pathology in CF. This will be determined by demonstrating that IL-17 PMNs are present in the CF airway, correlate with lung function measures, and decrease in patients being treated with IV antibiotics for a pulmonary exacerbation.

NCT02025829 Cystic Fibrosis
MeSH:Cystic Fibrosis Pneumonia Fibrosis Inflammation
HPO:Pneumonia


Primary Outcomes

Description: In the Exacerbation/IV Antibiotics Cohort--Subjects will serve as their own controls. The percentage of neutrophils (in sputum) positive for IL-17 was determined by flow cytometry for each subject at the beginning and end of treatment for a pulmonary exacerbation. Sputum IL-17 neutrophil counts will be compared to the change in lung function (FEV1) as determined by spirometry (American Thoracic Society standards).

Measure: Change in Sputum IL-17 Neutrophils

Time: End of Treatment, two weeks. Samples will be obtained from each study volunteer at the beginning of IV antibiotic treatment and at the completion of antibiotic treatment for a pulmonary exacerbation

Secondary Outcomes

Description: In the Clinically Stable Cohort--Measurement of sputum inflammatory mediators: IL-1β, IL-6, IL-8, IL-17A, TGF-β, TNF-α, and neutrophil elastase

Measure: Sputum Inflammatory Mediators: IL-1β, IL-6, IL-8, IL-17A, TGF-β, TNF-α, and Neutrophil Elastase

Time: Samples will be obtained at one outpatient clinic visit during the next calendar year

Description: In the Exacerbation/IV Antibiotics Cohort--Measurement of sputum inflammatory mediators by multiplex assay for IL-1β, IL-6, IL-8, and IL-17A. Neutrophil elastase determined by colorimetric assay. Measurements at the beginning of IV antibiotic treatment and after 2 weeks antibiotic treatment for a pulmonary exacerbation

Measure: Sputum Inflammatory Mediators: IL-1β, IL-6, IL-8, IL-17A, and Neutrophil Elastase

Time: End of Treatment, two weeks. Samples will be obtained from each study volunteer at the beginning of IV antibiotic treatment and at the completion of antibiotic treatment for a pulmonary exacerbation

Time Perspective: Prospective

Case-Only


There is one SNP

SNPs


1 G551D

Inclusion Criteria: - For Both Cohorts: ≥ 18 < 50 years of age - For Both Cohorts: Must have a documented diagnosis of CF (positive sweat chloride ≥60 milliequivalents (mEq)/liter, by pilocarpine iontophoresis) and/or a genotype with two identifiable mutations consistent with CF accompanied by one or more clinical features with the CF) phenotype - For Both Cohorts: Chronically infected with P. aeruginosa defined by 2 positive cultures in the past year or 3 in the last two years - For Both Cohorts: Ability to expectorate mucus - For Both Cohorts: Ability to provide written informed consent - For Clinically Stable Cohort: 4 subjects with one copy of G551D - For Clinically Stable Cohort: 10 subjects who do not have G551D, they must have one copy of F508del - For Clinically Stable Cohort: CF subjects must have a baseline FEV1 percent predicted > 50% (in the last year, obtained from medical record) - For Clinically Stable Cohort: Clinically stable: free of any acute illness for >14 days - For Clinically Stable Cohort: Must have performed spirometry for clinical purposes at that clinical visit - For Clinically Stable Cohort: Must have a sputum culture sent to the clinical lab for clinical purposes at the time of the study visit - For Clinically Stable Cohort: Have not been prescribed any new systemic antibiotics for the 14 days prior to enrollment - For Exacerbation/IV Antibiotics Cohort: One copy of F508del - For Exacerbation/IV Antibiotics Cohort: Must have a doctor defined pulmonary exacerbation requiring treatment with IV antibiotics - For Exacerbation/IV Antibiotics Cohort: Must have performed spirometry for clinical purposes within 72 hours of initiating IV antibiotics and within 72 hours of completing IV antibiotics - For Exacerbation/IV Antibiotics Cohort: Must have a sputum culture sent to the clinical lab for clinical purposes within 72 hours of admission Exclusion Criteria: - For Both Cohorts: Pregnancy (based on self-report) - For Both Cohorts: Co-infection with Burkholderia cepacia complex organisms - For Both Cohorts: Any condition that in the opinion of the subject or the subject's managing physician that would compromise that individuals ability to participate in these studies - For Both Cohorts: Inability to tolerate the study procedures Inclusion Criteria: - For Both Cohorts: ≥ 18 < 50 years of age - For Both Cohorts: Must have a documented diagnosis of CF (positive sweat chloride ≥60 milliequivalents (mEq)/liter, by pilocarpine iontophoresis) and/or a genotype with two identifiable mutations consistent with CF accompanied by one or more clinical features with the CF) phenotype - For Both Cohorts: Chronically infected with P. aeruginosa defined by 2 positive cultures in the past year or 3 in the last two years - For Both Cohorts: Ability to expectorate mucus - For Both Cohorts: Ability to provide written informed consent - For Clinically Stable Cohort: 4 subjects with one copy of G551D - For Clinically Stable Cohort: 10 subjects who do not have G551D, they must have one copy of F508del - For Clinically Stable Cohort: CF subjects must have a baseline FEV1 percent predicted > 50% (in the last year, obtained from medical record) - For Clinically Stable Cohort: Clinically stable: free of any acute illness for >14 days - For Clinically Stable Cohort: Must have performed spirometry for clinical purposes at that clinical visit - For Clinically Stable Cohort: Must have a sputum culture sent to the clinical lab for clinical purposes at the time of the study visit - For Clinically Stable Cohort: Have not been prescribed any new systemic antibiotics for the 14 days prior to enrollment - For Exacerbation/IV Antibiotics Cohort: One copy of F508del - For Exacerbation/IV Antibiotics Cohort: Must have a doctor defined pulmonary exacerbation requiring treatment with IV antibiotics - For Exacerbation/IV Antibiotics Cohort: Must have performed spirometry for clinical purposes within 72 hours of initiating IV antibiotics and within 72 hours of completing IV antibiotics - For Exacerbation/IV Antibiotics Cohort: Must have a sputum culture sent to the clinical lab for clinical purposes within 72 hours of admission Exclusion Criteria: - For Both Cohorts: Pregnancy (based on self-report) - For Both Cohorts: Co-infection with Burkholderia cepacia complex organisms - For Both Cohorts: Any condition that in the opinion of the subject or the subject's managing physician that would compromise that individuals ability to participate in these studies - For Both Cohorts: Inability to tolerate the study procedures Cystic Fibrosis Cystic Fibrosis Pneumonia Fibrosis Inflammation This study consists of two parts which will be conducted in parallel. --- G551D ---

Inclusion Criteria: - For Both Cohorts: ≥ 18 < 50 years of age - For Both Cohorts: Must have a documented diagnosis of CF (positive sweat chloride ≥60 milliequivalents (mEq)/liter, by pilocarpine iontophoresis) and/or a genotype with two identifiable mutations consistent with CF accompanied by one or more clinical features with the CF) phenotype - For Both Cohorts: Chronically infected with P. aeruginosa defined by 2 positive cultures in the past year or 3 in the last two years - For Both Cohorts: Ability to expectorate mucus - For Both Cohorts: Ability to provide written informed consent - For Clinically Stable Cohort: 4 subjects with one copy of G551D - For Clinically Stable Cohort: 10 subjects who do not have G551D, they must have one copy of F508del - For Clinically Stable Cohort: CF subjects must have a baseline FEV1 percent predicted > 50% (in the last year, obtained from medical record) - For Clinically Stable Cohort: Clinically stable: free of any acute illness for >14 days - For Clinically Stable Cohort: Must have performed spirometry for clinical purposes at that clinical visit - For Clinically Stable Cohort: Must have a sputum culture sent to the clinical lab for clinical purposes at the time of the study visit - For Clinically Stable Cohort: Have not been prescribed any new systemic antibiotics for the 14 days prior to enrollment - For Exacerbation/IV Antibiotics Cohort: One copy of F508del - For Exacerbation/IV Antibiotics Cohort: Must have a doctor defined pulmonary exacerbation requiring treatment with IV antibiotics - For Exacerbation/IV Antibiotics Cohort: Must have performed spirometry for clinical purposes within 72 hours of initiating IV antibiotics and within 72 hours of completing IV antibiotics - For Exacerbation/IV Antibiotics Cohort: Must have a sputum culture sent to the clinical lab for clinical purposes within 72 hours of admission Exclusion Criteria: - For Both Cohorts: Pregnancy (based on self-report) - For Both Cohorts: Co-infection with Burkholderia cepacia complex organisms - For Both Cohorts: Any condition that in the opinion of the subject or the subject's managing physician that would compromise that individuals ability to participate in these studies - For Both Cohorts: Inability to tolerate the study procedures Inclusion Criteria: - For Both Cohorts: ≥ 18 < 50 years of age - For Both Cohorts: Must have a documented diagnosis of CF (positive sweat chloride ≥60 milliequivalents (mEq)/liter, by pilocarpine iontophoresis) and/or a genotype with two identifiable mutations consistent with CF accompanied by one or more clinical features with the CF) phenotype - For Both Cohorts: Chronically infected with P. aeruginosa defined by 2 positive cultures in the past year or 3 in the last two years - For Both Cohorts: Ability to expectorate mucus - For Both Cohorts: Ability to provide written informed consent - For Clinically Stable Cohort: 4 subjects with one copy of G551D - For Clinically Stable Cohort: 10 subjects who do not have G551D, they must have one copy of F508del - For Clinically Stable Cohort: CF subjects must have a baseline FEV1 percent predicted > 50% (in the last year, obtained from medical record) - For Clinically Stable Cohort: Clinically stable: free of any acute illness for >14 days - For Clinically Stable Cohort: Must have performed spirometry for clinical purposes at that clinical visit - For Clinically Stable Cohort: Must have a sputum culture sent to the clinical lab for clinical purposes at the time of the study visit - For Clinically Stable Cohort: Have not been prescribed any new systemic antibiotics for the 14 days prior to enrollment - For Exacerbation/IV Antibiotics Cohort: One copy of F508del - For Exacerbation/IV Antibiotics Cohort: Must have a doctor defined pulmonary exacerbation requiring treatment with IV antibiotics - For Exacerbation/IV Antibiotics Cohort: Must have performed spirometry for clinical purposes within 72 hours of initiating IV antibiotics and within 72 hours of completing IV antibiotics - For Exacerbation/IV Antibiotics Cohort: Must have a sputum culture sent to the clinical lab for clinical purposes within 72 hours of admission Exclusion Criteria: - For Both Cohorts: Pregnancy (based on self-report) - For Both Cohorts: Co-infection with Burkholderia cepacia complex organisms - For Both Cohorts: Any condition that in the opinion of the subject or the subject's managing physician that would compromise that individuals ability to participate in these studies - For Both Cohorts: Inability to tolerate the study procedures Cystic Fibrosis Cystic Fibrosis Pneumonia Fibrosis Inflammation This study consists of two parts which will be conducted in parallel. --- G551D --- --- G551D ---

Inclusion Criteria: - For Both Cohorts: ≥ 18 < 50 years of age - For Both Cohorts: Must have a documented diagnosis of CF (positive sweat chloride ≥60 milliequivalents (mEq)/liter, by pilocarpine iontophoresis) and/or a genotype with two identifiable mutations consistent with CF accompanied by one or more clinical features with the CF) phenotype - For Both Cohorts: Chronically infected with P. aeruginosa defined by 2 positive cultures in the past year or 3 in the last two years - For Both Cohorts: Ability to expectorate mucus - For Both Cohorts: Ability to provide written informed consent - For Clinically Stable Cohort: 4 subjects with one copy of G551D - For Clinically Stable Cohort: 10 subjects who do not have G551D, they must have one copy of F508del - For Clinically Stable Cohort: CF subjects must have a baseline FEV1 percent predicted > 50% (in the last year, obtained from medical record) - For Clinically Stable Cohort: Clinically stable: free of any acute illness for >14 days - For Clinically Stable Cohort: Must have performed spirometry for clinical purposes at that clinical visit - For Clinically Stable Cohort: Must have a sputum culture sent to the clinical lab for clinical purposes at the time of the study visit - For Clinically Stable Cohort: Have not been prescribed any new systemic antibiotics for the 14 days prior to enrollment - For Exacerbation/IV Antibiotics Cohort: One copy of F508del - For Exacerbation/IV Antibiotics Cohort: Must have a doctor defined pulmonary exacerbation requiring treatment with IV antibiotics - For Exacerbation/IV Antibiotics Cohort: Must have performed spirometry for clinical purposes within 72 hours of initiating IV antibiotics and within 72 hours of completing IV antibiotics - For Exacerbation/IV Antibiotics Cohort: Must have a sputum culture sent to the clinical lab for clinical purposes within 72 hours of admission Exclusion Criteria: - For Both Cohorts: Pregnancy (based on self-report) - For Both Cohorts: Co-infection with Burkholderia cepacia complex organisms - For Both Cohorts: Any condition that in the opinion of the subject or the subject's managing physician that would compromise that individuals ability to participate in these studies - For Both Cohorts: Inability to tolerate the study procedures Inclusion Criteria: - For Both Cohorts: ≥ 18 < 50 years of age - For Both Cohorts: Must have a documented diagnosis of CF (positive sweat chloride ≥60 milliequivalents (mEq)/liter, by pilocarpine iontophoresis) and/or a genotype with two identifiable mutations consistent with CF accompanied by one or more clinical features with the CF) phenotype - For Both Cohorts: Chronically infected with P. aeruginosa defined by 2 positive cultures in the past year or 3 in the last two years - For Both Cohorts: Ability to expectorate mucus - For Both Cohorts: Ability to provide written informed consent - For Clinically Stable Cohort: 4 subjects with one copy of G551D - For Clinically Stable Cohort: 10 subjects who do not have G551D, they must have one copy of F508del - For Clinically Stable Cohort: CF subjects must have a baseline FEV1 percent predicted > 50% (in the last year, obtained from medical record) - For Clinically Stable Cohort: Clinically stable: free of any acute illness for >14 days - For Clinically Stable Cohort: Must have performed spirometry for clinical purposes at that clinical visit - For Clinically Stable Cohort: Must have a sputum culture sent to the clinical lab for clinical purposes at the time of the study visit - For Clinically Stable Cohort: Have not been prescribed any new systemic antibiotics for the 14 days prior to enrollment - For Exacerbation/IV Antibiotics Cohort: One copy of F508del - For Exacerbation/IV Antibiotics Cohort: Must have a doctor defined pulmonary exacerbation requiring treatment with IV antibiotics - For Exacerbation/IV Antibiotics Cohort: Must have performed spirometry for clinical purposes within 72 hours of initiating IV antibiotics and within 72 hours of completing IV antibiotics - For Exacerbation/IV Antibiotics Cohort: Must have a sputum culture sent to the clinical lab for clinical purposes within 72 hours of admission Exclusion Criteria: - For Both Cohorts: Pregnancy (based on self-report) - For Both Cohorts: Co-infection with Burkholderia cepacia complex organisms - For Both Cohorts: Any condition that in the opinion of the subject or the subject's managing physician that would compromise that individuals ability to participate in these studies - For Both Cohorts: Inability to tolerate the study procedures Cystic Fibrosis Cystic Fibrosis Pneumonia Fibrosis Inflammation This study consists of two parts which will be conducted in parallel. --- G551D --- --- G551D --- --- G551D ---

Inclusion Criteria: - For Both Cohorts: ≥ 18 < 50 years of age - For Both Cohorts: Must have a documented diagnosis of CF (positive sweat chloride ≥60 milliequivalents (mEq)/liter, by pilocarpine iontophoresis) and/or a genotype with two identifiable mutations consistent with CF accompanied by one or more clinical features with the CF) phenotype - For Both Cohorts: Chronically infected with P. aeruginosa defined by 2 positive cultures in the past year or 3 in the last two years - For Both Cohorts: Ability to expectorate mucus - For Both Cohorts: Ability to provide written informed consent - For Clinically Stable Cohort: 4 subjects with one copy of G551D - For Clinically Stable Cohort: 10 subjects who do not have G551D, they must have one copy of F508del - For Clinically Stable Cohort: CF subjects must have a baseline FEV1 percent predicted > 50% (in the last year, obtained from medical record) - For Clinically Stable Cohort: Clinically stable: free of any acute illness for >14 days - For Clinically Stable Cohort: Must have performed spirometry for clinical purposes at that clinical visit - For Clinically Stable Cohort: Must have a sputum culture sent to the clinical lab for clinical purposes at the time of the study visit - For Clinically Stable Cohort: Have not been prescribed any new systemic antibiotics for the 14 days prior to enrollment - For Exacerbation/IV Antibiotics Cohort: One copy of F508del - For Exacerbation/IV Antibiotics Cohort: Must have a doctor defined pulmonary exacerbation requiring treatment with IV antibiotics - For Exacerbation/IV Antibiotics Cohort: Must have performed spirometry for clinical purposes within 72 hours of initiating IV antibiotics and within 72 hours of completing IV antibiotics - For Exacerbation/IV Antibiotics Cohort: Must have a sputum culture sent to the clinical lab for clinical purposes within 72 hours of admission Exclusion Criteria: - For Both Cohorts: Pregnancy (based on self-report) - For Both Cohorts: Co-infection with Burkholderia cepacia complex organisms - For Both Cohorts: Any condition that in the opinion of the subject or the subject's managing physician that would compromise that individuals ability to participate in these studies - For Both Cohorts: Inability to tolerate the study procedures Inclusion Criteria: - For Both Cohorts: ≥ 18 < 50 years of age - For Both Cohorts: Must have a documented diagnosis of CF (positive sweat chloride ≥60 milliequivalents (mEq)/liter, by pilocarpine iontophoresis) and/or a genotype with two identifiable mutations consistent with CF accompanied by one or more clinical features with the CF) phenotype - For Both Cohorts: Chronically infected with P. aeruginosa defined by 2 positive cultures in the past year or 3 in the last two years - For Both Cohorts: Ability to expectorate mucus - For Both Cohorts: Ability to provide written informed consent - For Clinically Stable Cohort: 4 subjects with one copy of G551D - For Clinically Stable Cohort: 10 subjects who do not have G551D, they must have one copy of F508del - For Clinically Stable Cohort: CF subjects must have a baseline FEV1 percent predicted > 50% (in the last year, obtained from medical record) - For Clinically Stable Cohort: Clinically stable: free of any acute illness for >14 days - For Clinically Stable Cohort: Must have performed spirometry for clinical purposes at that clinical visit - For Clinically Stable Cohort: Must have a sputum culture sent to the clinical lab for clinical purposes at the time of the study visit - For Clinically Stable Cohort: Have not been prescribed any new systemic antibiotics for the 14 days prior to enrollment - For Exacerbation/IV Antibiotics Cohort: One copy of F508del - For Exacerbation/IV Antibiotics Cohort: Must have a doctor defined pulmonary exacerbation requiring treatment with IV antibiotics - For Exacerbation/IV Antibiotics Cohort: Must have performed spirometry for clinical purposes within 72 hours of initiating IV antibiotics and within 72 hours of completing IV antibiotics - For Exacerbation/IV Antibiotics Cohort: Must have a sputum culture sent to the clinical lab for clinical purposes within 72 hours of admission Exclusion Criteria: - For Both Cohorts: Pregnancy (based on self-report) - For Both Cohorts: Co-infection with Burkholderia cepacia complex organisms - For Both Cohorts: Any condition that in the opinion of the subject or the subject's managing physician that would compromise that individuals ability to participate in these studies - For Both Cohorts: Inability to tolerate the study procedures Cystic Fibrosis Cystic Fibrosis Pneumonia Fibrosis Inflammation This study consists of two parts which will be conducted in parallel. --- G551D --- --- G551D --- --- G551D --- --- G551D ---



HPO Nodes


HPO:
HP:0002090: Pneumonia
Genes 272
TBX20 DCLRE1C ZIC2 HLA-DQA1 GAS8 GRHL3 DNAI2 SFTPC CARD11 DNAJC21 CD81 NODAL PGM3 IL2RG GNPTAB ORC6 SFTPA2 CD247 NTRK1 TNFRSF13C SIX3 ACTA1 MUC5B LAMA3 IL2RG DNMT3B MED25 CHD7 TNFRSF13C EGFR ZBTB24 CACNA1C CYBB RNF125 NFKB1 CITED2 SMARCD2 SLC25A24 BLNK LRBA IRF8 DISP1 GAS1 KIAA0586 FOXH1 SFTPB CFTR KMT2D MAN2B1 LAMC2 P4HTM MASP2 CR2 CREBBP COL11A2 AFF4 ADA ICOS RAG1 FCGR2A CD3D SIX3 PRKCD DLL1 RANBP2 SIX3 TDGF1 PMM2 IL21R GATA4 WAS LTBP3 CFB KCNJ6 FOXH1 SGCG RNU4ATAC CDON TAF1 SLC35C1 LEP CDON EPM2A KDM6A UBB GAS1 FBLN5 ACP5 MCIDAS TBC1D24 CD79B MAN2B1 MTHFD1 TIMM8A SLC35A1 DNAI1 RAG2 ZIC2 BTK IL7R CD3E AFF4 PIK3CD NODAL NBN FOXH1 EFEMP2 NCF1 NFIX OFD1 RNF168 RAG2 SHH RAC1 DISP1 CD19 PANK2 TNFRSF13C FGF8 FANCF GLI2 IGLL1 ALMS1 SBDS EP300 CASP8 BLM ICOS DISP1 TGIF1 CRLF1 ADA UNC119 PIGN FOXP3 FGF8 TDGF1 PTCH1 NCF2 CR2 TDGF1 IL2RG GLI2 FGF8 NIPBL RAG2 WDR1 SHH BTK ZAP70 GLI2 TK2 FGFR1 CREBBP IL2RG GAS1 STAT3 DDR2 TGIF1 DCLRE1C GBA CFAP410 ELANE LAMB3 CDON IL7R MS4A1 NFKB2 STAG2 CD19 EXTL3 PTCH1 SIX3 TCIRG1 TBX20 PAFAH1B1 FOXH1 SAMD9 TNFRSF13B TGIF1 RAG1 ALMS1 NKX2-5 ZIC2 SP110 CD55 CYBA ACTC1 NFKB2 PEPD PNP PKHD1 FGF8 CYBC1 ACP5 TNFRSF11A CSPP1 WDR19 SHH DZIP1L TDGF1 DCLRE1C TLL1 JAK3 DLL1 STAG2 SHH NODAL POLA1 NOS1 TGIF1 PTCH1 ZIC2 ASAH1 TBCD CXCR4 RAC2 FGFR1 GAS1 EFL1 FMO3 HLA-DQB1 RYR1 SRP54 RAG1 BTK ABCA3 ZAP70 CARD11 SETBP1 USB1 SELENON RMRP KNSTRN NADK2 TERT CDON NHLRC1 NKX2-1 PTPRC GATA6 ICOS OSTM1 NODAL GFI1 ACADVL DLL1 PTCH1 TGFB1 TNFRSF13B KPTN TNFSF12 GLI2 ADA JAK3 LIG4 COL11A2 ODAD1 PLOD1 MYH6 DLL1 IFNGR1 SRP54 TNFSF12 IGHM RNU4ATAC SFTPC DOCK8 NBN FOXN1 DISP1 SMC1A
SNP 0