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 NCT02025829

Developed by Shray Alag, 2020-2021.
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 280
TLL1 CHD7 TGIF1 KMT2D ACP5 PIGN JAK3 NOS1 SFTPB SRP54 MS4A1 NODAL USB1 CD79B SGCG ACTC1 CASP8 TGFB1 OFD1 CD19 CD247 NHLRC1 SHH NTRK1 EGFR LAMA3 PLOD1 FANCF JAK3 RAG2 PGM3 CACNA1C BTK IL2RG PIK3CD CREBBP KCNJ6 FMO3 ACTA1 TNFSF12 GATA6 ZAP70 PLOD1 UNC119 FGF8 GAS1 DNAI1 WAS GNPTAB FOXH1 CYBC1 LAMC2 RAG1 PEPD PDHA1 PMM2 PAFAH1B1 CD19 CD3D SIX3 CD81 DLL1 LTBP3 EP300 TNFRSF13B SIX3 GLI2 SMARCD2 TIMM8A MYH6 DCLRE1C ABCA3 IL7R TBC1D24 STAT3 CFB FOXH1 FOXP3 FCGR2A P4HTM AP3B1 POLA1 TK2 CDON PKHD1 TAF1 CDON NIPBL GRHL3 GAS1 EFEMP2 CRLF1 SLC35A1 SLC25A24 DOCK8 ZIC2 LEP AFF4 DDR2 CD3E PTPRC BLM RNU4ATAC TNFRSF13C KNSTRN CDON SELENON FOXH1 ORC6 RAG1 RNF168 SHH DISP1 CYBA IL7R CARD11 LONP1 COL11A2 CR2 FGF8 ZIC2 CARD11 CYBB NBN ICOS DNAJC21 DNMT3B DISP1 TGIF1 HLA-DQB1 ADA SETBP1 MED25 FOXH1 SLC35C1 ACADVL TDGF1 PNP SP110 SMC1A ICOS SREBF1 TDGF1 NBN DCLRE1C ALMS1 GLI2 MCIDAS FGF8 NCF1 RAG1 PTCH1 NADK2 IL2RG ZBTB24 ZAP70 GLI2 FGFR1 GAS1 TNFRSF13B GAS1 IFNGR1 CFTR COL11A2 CR2 SAMD9 CD247 TGIF1 TREX1 CARMIL2 TCIRG1 BLNK UBB SRP54 LAMB3 DISP1 RMRP TNFRSF13C NFKB1 STAG2 IRF8 PTCH1 SIX3 KPTN TBX20 TDGF1 CSPP1 IGHM BTK NFIX RNU4ATAC CXCR4 NFKB2 RAC1 CD27 TGIF1 ADA TBX20 ZIC2 MTHFD1 RAG2 GATA4 TNFRSF11A DZIP1L FGF8 KIAA0586 SHH TDGF1 RYR1 ODAD1 WDR1 CREBBP CITED2 DLL1 NCF2 TBCD SHH NODAL RAC2 SIX3 GBA PTCH1 DNAI2 ZIC2 TNFRSF13C ALMS1 PURA STAG2 DLL1 SBDS ICOS EFL1 ACP5 SFTPC CFAP410 MASP2 IL2RG IGLL1 AFF4 BTK LIG4 NFKB2 WDR19 CD55 CDON GAS8 EPM2A NKX2-1 RNF125 DCLRE1C NODAL LRBA ELANE MAN2B1 DLL1 PTCH1 HLA-DQA1 EXTL3 SLC35C1 MAN2B1 FOXN1 PRKCD GLI2 RANBP2 MID1 IL2RG FBLN5 NKX2-5 NODAL GFI1 TNFSF12 RAG2 ADA IL21R KDM6A OSTM1 ASAH1 DISP1 PANK2 FGFR1
SNP 0