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 NCT02455362

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

A Multi-site, Double-blind, Parallel Arm, Block Randomised, Placebo Controlled, Factorial Phase III Study of Opioids for Chronic Refractory Breathlessness in People With Chronic Obstructive Pulmonary Disease.

Breathlessness, the sensation of breathing discomfort, is a major problem in people with chronic obstructive pulmonary disease (COPD). Breathlessness that persists despite optimal management of the underlying disease(s) is said to be refractory. Preliminary evidence suggests that a small, regular dose of morphine helps to reduce safely the sensation of breathlessness. However, this research on morphine for breathlessness has not defined the best way to adjust the dose of the medication, or refined which people are most likely to have benefit, no response or side effects. This is a randomized, double-blind phase III trial in people with COPD and significant refractory breathlessness, which will explore several important questions: - Are regular, low dose opioids (morphine) at four possible doses over 3 weeks more effective than placebo medication (containing no active ingredient) at improving breathlessness? - Does the medication have any effect on daily activity, breathlessness, and quality of life? - What are the common side effects of this intervention? - Does the benefit from the drug outweigh the side effects it produces? - Are there specific characteristics of people who are more likely to receive benefit from sustained release morphine? Participants will be allocated to receive three weeks of morphine sulfate (and laxative, docusate with senna), or placebo (and placebo laxative). The dose of morphine may be increased each week for weeks two and three. All medicines will appear the same (blinded) and neither the doctor nor the participant will know which medication the participant is receiving. Participants will have a medical interview, physical examination to collect some general health information, and baseline measurements including; daily activity, symptoms, and quality of life. A small amount of blood may be required to check eligibility. Further blood samples may be taken at week 1 and 3 to enable testing on how individuals respond to opioids, further consent will be obtained for these samples. Data on benefits, side effects, and medical care will be collected during comprehensive weekly visits. Participants will also fill out a simple diary twice daily for weeks one to three of the study, and for one day each week during an optional 3 month extension stage. The outcome of this study may enable better management of symptoms and activity in people COPD with medicines that are shown to be effective and safe.

NCT02455362 Chronic Obstructive Pulmonary Disease Dyspnea
MeSH:Lung Diseases Lung Diseases, Obstructive Pulmonary Disease, Chronic Obstructive Dyspnea
HPO:Abnormal lung morphology Chronic pulmonary obstruction Dyspnea Pulmonary obstruction Respiratory distress

2 Interventions

Name: Morphine sulfate

Description: Treatment with sustained-release morphine sulfate is given as one double-blind capsule in the morning.
Type: Drug
Group Labels: 11

Morphine sulfate (0, 0, 8 mg) Morphine sulfate (0, 8, 16 mg) Morphine sulfate (0, 8, 8 mg) Morphine sulfate (16, 16, 16 mg) Morphine sulfate (16, 16, 24 mg) Morphine sulfate (16, 24, 24 mg) Morphine sulfate (16, 24, 32 mg) Morphine sulfate (8, 16, 16 mg) Morphine sulfate (8, 16, 24 mg) Morphine sulfate (8, 8, 16 mg) Morphine sulfate (8, 8, 8 mg)

Name: Placebo

Type: Drug
Group Labels: 1

Placebo


Primary Outcomes

Description: Rated on a 0-10 numerical rating scale (NRS) in a diary each evening. The primary endpoint is the difference between placebo, morphine sulfate 8 mg, or 16 mg after the first treatment week.

Measure: Change from baseline intensity of breathlessness over the previous 24 hours

Time: Week 1

Secondary Outcomes

Description: Rated on a 0-10 numerical rating scale (NRS) in a diary each evening.

Measure: Change from baseline unpleasantness of breathlessness over the previous 24 hours

Time: Week 3

Description: Rated on a 0-10 numerical rating scale (NRS) in a diary each morning.

Measure: Change from baseline intensity of breathlessness "right now"

Time: Week 3

Description: In addition to the NRS ratings, the intensity of breathlessness is rated on a 0-10 modified Borg scale in a evening diary.

Measure: Change from baseline in the intensity of breathlessness

Time: Week 1

Description: Collected in a diary in the evening, including of any rescue medication used.

Measure: Current medication use and compliance

Time: At study end for up to 15 weeks.

Description: Collected in a diary in the evening.

Measure: Number of participants with adverse events

Time: At study end for up to 15 weeks.

Description: Measured during two days at baseline and during at least five days of treatment week three.

Measure: Change from baseline physical activity using an accelerometer

Time: Week 3

Description: Measured using the revised Edmonton Symptoms Assessment Scale (ESAS-r).

Measure: Change from baseline in concurrent symptoms

Time: Week 1

Description: Measures the functional impact of breathlessness.

Measure: The modified Medical Research Council (mMRC) breathlessness scale

Time: At study end for up to 15 weeks.

Description: To explore whether longer term morphine treatment is associated with decreased levels of testosterone.

Measure: Change from baseline serum testosterone level

Time: At the end of the 3 month follow-up stage, after up to 15 weeks.

Description: From the baseline sample, the UGT2B7*2 and *28 polymorphisms, P-glycoprotein (ABCB1 5SNPs in a haplotype block), the 5-hydroxytryptamine type 3B (HTR3B) gene rs7103572, and mu opioid receptor (A118G) polymorphisms will be measured. Interleukin 1ß, TNFalpha and Il-6 will be measured at baseline and at the end of the first treatment week.

Measure: Change from baseline pharmacogenomic opioid blood profile

Time: Week 1

Description: In a subset of 55 participants, blood parameters for morphine and its metabolites will be analysed (4 blood samples over 8 hours) at steady state of the treatment at the end of the week 1.

Measure: Pharmacodynamic/-kinetic blood samples

Time: Week 1

Description: Exhaled gas measured using a non-invasive capnometer.

Measure: Change from baseline end-tidal carbon dioxide

Time: Week 3

Description: Non-invasive measurement of the oxygen saturation, respiratory rate, and heart rate.

Measure: Change from baseline pulse oximetry

Time: Week 3

Description: Twenty (20) participants at the Sydney and Adelaide sites will be invited to undertake a simple, non-invasive home sleep study using the ResMed ApneaLink Plus device.

Measure: Change from baseline sleep quality

Time: The final night of week 3

Description: Rated on a 4 point Likert scale in a morning diary.

Measure: Change from baseline sleep quality

Time: During the study for up to 15 weeks.

Description: The questionnaires used are the Epworth Sleepiness Scale, Leeds Sleep Questionnaire, and the Karolinska Sleepiness Scale.

Measure: Change from baseline sleep quality and sleep-related problems

Time: Week 3

Description: Measure of the bowel function, during treatment with placebo / morphine sulfate 8 or 16 mg.

Measure: Change from baseline bowel function index

Time: Week 1

Description: Measured on the CRQ-SAS Dyspnoea sub-scale.

Measure: Change from baseline breathlessness-related quality of life

Time: Week 3

Description: Measured using the EQ-5D questionnaire.

Measure: Change from baseline health-related quality of life

Time: During the study for up to 15 weeks.

Description: Life-Space is a measure of where a person goes, the frequency of going there, and the dependency in getting there.

Measure: Change from baseline Life-space

Time: During the study for up to 15 weeks.

Description: A score of 0 to 100 (in increments of 10) is assigned to participants based on their ability to undertake a range of daily tasks. The score gives an indication of the participant condition in terms of physical ability.

Measure: Change from baseline Australian Karnofsky Performance Status

Time: During the study for up to 15 weeks.

Description: A 14-item questionnaire used to measure anxiety and/or depression.

Measure: Change from baseline Hospital Anxiety and Depression Scale

Time: Week 3

Description: Participant-rated seven point scale of the perception of their change, specifically their improvement since the commencement of the study.

Measure: Global Impression of Change

Time: During the study for up to 15 weeks.

Description: Participants will be asked for their preference to continue at study exit ('Is this a therapy which, on balance, you would continue to take for your breathlessness?')

Measure: Blinded patient preference to continue treatment

Time: At study end after up to 15 weeks.

Description: Data on all health care contacts including lenght of hospitalizations, emergency department visits, DRG codes, outpatient visits to general practitioner and community nurse, and date of death.

Measure: Health economy composite

Time: During the study for up to 15 weeks.

Purpose: Treatment

Allocation: Randomized

Factorial Assignment


There is one SNP

SNPs


1 A118G

From the baseline sample, the UGT2B7*2 and *28 polymorphisms, P-glycoprotein (ABCB1 5SNPs in a haplotype block), the 5-hydroxytryptamine type 3B (HTR3B) gene rs7103572, and mu opioid receptor (A118G) polymorphisms will be measured. --- A118G ---



HPO Nodes


HPO:
HP:0002088: Abnormal lung morphology
Genes 1393
CDC45 SMARCA4 TBC1D24 ELN SNX10 SLC1A4 GRHL3 CFAP298 RSPH4A EDNRB TMEM94 CARD11 LPIN2 CD3E COG4 PGM3 ECM1 GNPTAB LIMK1 HLA-DRB1 CFTR CD247 PDGFRA LMNA FBN1 NTRK1 SOS2 PSAT1 ZBTB24 GP1BB MANBA CLEC7A IL2RG TARS1 DNAAF2 NSD2 SEC24C DNAJB13 DNAAF3 EXOSC9 DYNC2LI1 NELFA EDARADD NPHP3 STING1 GDF1 COL2A1 MAP3K20 CTRC HLA-DPB1 OFD1 SMARCD2 ABCA12 ERCC6 FGF20 LZTR1 SCNN1G SLC25A24 BLNK NKX2-5 TRIP13 SOX10 GAS2L2 TYK2 HELLS TTC21B FOXH1 DNAAF6 INPPL1 ITGA8 PERP EIF2AK4 OCRL GPR35 GTF2E2 NEB FOXC2 MASP2 STAT5B COL11A2 FBXW11 MYO5A CTLA4 LBR FCGR2A PRKCD RANBP2 HYLS1 IL21R DGCR8 BMPER GATA4 NSD1 TSC2 FLCN LTBP3 CYBA SPINK5 ATP5F1A CTLA4 FLT4 TERC KCNJ6 FOXH1 TCF4 NAGLU GUSB SHROOM4 EVC LIPN RNU4ATAC TPM3 PTPN11 CDT1 MUSK HERC2 NEK1 FLNB EPG5 GAS1 FBLN5 NRAS ACP5 MCIDAS MAN2B1 TIMM8A COL13A1 BCOR MYLK PTPN22 SLC35A1 SLC46A1 HGSNAT RASGRP1 LYST ZNF341 XIAP LRRC56 FGFR1 IGH NODAL WDR19 LETM1 TRIP4 EFEMP2 NCF1 MCM4 SFTPC SOS1 STRA6 RSPH4A IL2RB RAG2 RAC1 DISP1 PHGDH WRAP53 PSMC3IP RBM10 PANK2 PEX1 TNFRSF13C GLI3 WNT3 ARID2 SBDS NPAP1 ACTA1 BLM CD40LG BRAF ICOS FASLG PRKN CCDC103 SNORD116-1 FOXP3 MEFV PTEN TDGF1 IL6R CIITA SLC2A10 CYTB ENG GLI2 FGF8 DNAJB13 CCDC39 STAT6 INVS IDUA GATA4 RPS15A NOP10 IFNG HLA-DRB1 FLNA JAG1 HABP2 VANGL1 GNPTAB MYBPC3 TBX6 MKRN3 SNORD115-1 LACC1 ELANE SMN1 DYNC2H1 KIF20A RPL10 ARHGAP31 PGM3 PEX13 CDON IL7R RAF1 SCNN1A STAG2 PLEC FLI1 CITED2 SIX3 TCIRG1 ETFA MITF MST1 ZNHIT3 LAMA2 IFT81 PDGFRB CYP4F22 DNAAF4 HLA-B FAT4 ZIC2 CALCRL KMT2E HFE CSF2RB CD55 IGH TTC37 DICER1 NFKB2 PEPD GPC6 TNFRSF13B FGF8 RAF1 ABCA3 STK36 RFX5 DPP9 RYR1 SFTPA1 SHH SKIV2L IRF1 LAT DCLRE1C SON SLC25A22 TLL1 AP3D1 TGFBR1 NODAL AGT ZMYND10 SOX18 NOS1 TPM2 BUB1B TRIP11 ERAP1 TNFRSF1B REST ZIC2 CTCF RAC2 CTLA4 PLP1 GAS1 EFL1 FMO3 TRIP4 RYR1 CIITA DLL3 AP3B1 PRTN3 PIGN TBX1 ABCA3 EFEMP2 AGA CHRND PCNT PKHD1 RSPH1 ZAP70 PAX3 NDN CHRNG NHLRC1 ACE DNAH1 KRAS IL12A KEAP1 ALDH18A1 SCNN1G ACADVL DCTN4 IRF5 TRAPPC4 CCN2 PTCH1 DKC1 GMNN TNFRSF13B GLI2 MCIDAS SCN11A ROR2 IVNS1ABP TRPV4 TSC1 FANCB ZEB2 RPL10 ODAD1 MESP2 CHST14 IL23R SLC12A6 MGP CFAP300 SMAD3 RSPH9 UMPS DHCR7 KRAS SFTPC COL13A1 SNRPN BUB3 FAM13A GAS8 WDR35 MFAP5 CACNA1B ZCCHC8 NTNG1 FLCN AK2 INPPL1 CHAT CCDC40 IL2RG CDC42 DYNC2H1 CD3G TASP1 SLC18A3 DGCR6 HOXD13 SCNN1G WT1 KAT6B WT1 MAP3K8 STAT1 ACTA1 TGFB3 MUC5B PRKAG2 SMN1 TAP1 SMAD4 ABL1 MED25 CHD7 TERT COG4 LMNA SULT2B1 GBA SPEF2 RREB1 SDR9C7 CEP57 CFI IDUA FUCA1 FLCN TBX1 HPS4 PIGT SAMD9L FLNC ESS2 NCF4 LRBA DRC1 DYNC2I2 RFXAP KIAA0586 DNAH5 DOCK8 PTEN MAN2B1 ZMPSTE24 TP53 ATM LAMC2 ACTL6A TRAF3IP2 POLR3H RELA TBX5 PARN CR2 IRF5 MED13 NUP88 GALNS TAP2 AFF4 UNG DNAAF4 RFC2 BCL11B NCF1 HPS1 CD3D RELB PTPN11 ODAD4 TDGF1 KAT6B PMM2 CYP2A6 RUNX2 POLA1 SGSH RIPPLY2 SERPINA1 WAS NDUFAF6 MMP21 SPP1 GLDN NSDHL ZFPM2 IL17F IL6ST IRAK4 KAT6B ACTL6B LRRC8A TAPBP CCNO GLI3 PLCG2 HK1 BMP15 TMEM260 MYL2 LEP ERCC3 TRPV3 IGLL1 EPM2A CCDC65 PRKCD SLC18A3 TAPT1 BMPR2 CD79B SLC7A7 FLNA FAM20C HLA-DRB1 SLCO2A1 CD46 XIAP DKC1 CYBB MYT1L CD3E AFF4 MESP2 VHL POLE BCOR FOXH1 BMP2 HYDIN TNNI3 RARA MAT2A EOGT NFIX MEFV DVL3 PTH1R BCL10 RNF168 CBL ITGA8 NEU1 KRAS CEP55 MYD88 NPM1 IGLL1 TP53 RSPO2 RRAS TRIP11 TGIF1 WAC ADA PKD1L1 UNC119 ACTA2 PSMD12 ACTA1 STRA6 PIGN GAA CD8A BCOR NEK9 TERT DHCR7 IKZF1 TSC2 LEPR SLC35A1 MUSK ARSB COG6 VPS51 COLQ WDR1 RASA2 TTC7A LTBP4 BTK GPC3 STAT3 GAS1 RUNX1 TTC12 WASHC5 INTU CD3D WT1 STAT3 BPTF CRTAP SLC2A10 COL2A1 COMT CCDC40 ASAH1 LIFR MEFV ACVRL1 MYH3 FAT4 DNAI2 LAMB3 PIEZO2 FOXE3 GRIP1 NFKB2 PIGL PTCH1 TGFBR2 ATP6V1E1 COL6A3 IL1RN PAFAH1B1 FOXH1 TP53 CRELD1 MBTPS2 RYR1 TNFRSF13B GRIP1 TGIF1 CLCN7 SP110 CC2D2A COL6A1 STN1 APC2 ITPR1 TCTN3 SMARCC2 PNP SLC11A1 GLUL PKHD1 ALPL BLM ACP5 WDR19 ASCC1 TDGF1 TFRC MGP DLL1 WNT4 IFT140 CCN2 SHH SMAD3 TGIF1 PRKAR1A EHMT1 EP300 CASP8 TGFBR1 ITGA7 AARS2 ERF DNMT3B FGFR1 IRF2BP2 CHRNG HLA-DQB1 SPAG1 SRP54 UBE2A CCNQ TINF2 BUB1 LFNG CARD11 DHCR24 ARID1B SELENON RMRP WAS NEK10 MAPK1 GATA6 SCNN1B TRIM28 DHCR24 SYT2 DOCK6 USB1 B3GLCT DLL1 CCR1 POLR3A PRPS1 HIRA RSPH1 SLC26A2 TNFSF12 PIK3R1 IER3IP1 GSN TINF2 NME8 SVBP LIG4 IL7R ALB COL11A2 COL3A1 NHLRC2 KIAA0319L TGFB1 DLL1 IFNGR1 LAMTOR2 DNAAF5 NXN CTLA4 CEP57 HLA-DRB1 MINPP1 CASP10 PTPN22 TBX20 RAB3GAP2 ALOXE3 ZIC2 NUP107 HES7 LRRC56 HLA-DQA1 KIF1A GAS8 TERT PSAP DNAI2 NOTCH2 DPM2 CD81 NODAL DNAH9 NABP1 PRKAR1A NUMA1 TBC1D23 NFKB2 DLL4 ORC6 FANCB SMARCB1 FCGR2B SIX3 GBA GATA4 MDM2 LAMA3 DSP KIF11 MLXIPL HLA-DRB1 NOTCH2 ADGRG6 DNAH5 SLC26A2 DYNC2I1 ATP6V0A2 EGFR ZBTB24 LYST ODAD4 CACNA1C CYBB RNF125 DPF2 RIT1 CITED2 RLIM WDR35 DYNC2I2 GATA6 RTEL1 IRF8 DISP1 GAS1 ABCA12 TRIP13 GPC3 ODAD3 DNAAF2 MECP2 BIRC3 SFTPB ELN CFTR NOTCH3 SCNN1A KMT2D DIS3L2 MDM4 IL17RA EPHB4 CCDC39 FBLN5 SPIDR TCF20 KLHL41 WNT3 IL17RA FCGR3A JMJD1C VPS33A UFD1 ODAD1 IKBKB CHEK2 FADD RSPH3 ZMIZ1 CREBBP TNFSF11 SCNN1B FREM2 CCR6 AGA SCNN1A ADA RAG1 RAG1 LMNA BRCA2 TGM1 TSC1 DLL1 SIX3 CARMIL2 GTF2I AKT1 CCDC65 ARID1A FGF20 RIPK4 ALG9 CFB RAG2 SCNN1G APOE SOX4 RAB27A MUC5B EWSR1 NECTIN1 ZMYND10 SGCG DNAAF6 CDON TAF1 IGHM LMNA LAMB2 LEP CSF2RA CD79A CFTR HPS6 DOK7 RCBTB1 CCBE1 FIP1L1 COQ7 SERPINF2 PWAR1 RPGR VPS33A ELN SPECC1L TET2 BTK SCNN1A RLIM IL7R EPG5 HLA-DRB1 TGFB2 PIK3CD GLA NBN HYDIN PSMB8 VAMP1 SDCCAG8 TINF2 FCGR2A SHH ARHGAP31 RAC2 CD19 DSE DDX6 HLA-B SERPINH1 GLI2 FLNA MARS1 ALMS1 SCNN1B ITCH SPAG1 DISP1 DNAAF5 IDUA TGFB2 FGF8 MSN SMARCE1 CHST14 WRN BCR FGFR3 SERPINA1 WDFY3 RAG1 PRPS1 FASLG DNASE1 NIPBL KLHL40 RAG2 MRAS RHOH ZAP70 TK2 FGFR1 CREBBP MYRF ALOX12B NOD2 RFXANK MYH11 EVC2 DYNC2LI1 ZEB2 IFIH1 RARB GBA USP9X IKBKB ABCA3 MYOD1 GATA6 CCNO CSPP1 TBCE GBA RARB NAA10 TSC1 FAS WNT4 PLCG2 ETFDH G6PC3 MS4A1 SPINK1 CD19 UBAC2 FLCN EXTL3 GUSB DYNC2I2 ATP11A NGLY1 SAMD9 NME8 TRAIP RRAS2 PYROXD1 SIK1 SLC26A2 RAG1 MYOD1 ALMS1 NKX2-5 IL21 FOXP1 PUF60 LAMTOR2 BCL2 SMAD4 TBL1XR1 ACTC1 FOXJ1 ARID1B HELLPAR SCNN1B DGCR2 DOCK3 FSHR MIF CYBC1 SNAI2 CSPP1 CCBE1 SMARCD1 IRAK1 JAK3 STAG2 PCGF2 CXCR4 LEPR DDR2 BCL6 POLA1 TRMT1 PTCH1 RPGR GATA6 CSF2RB CHRNA1 ASAH1 ASAH1 RAG2 NAB2 TERT MYSM1 BTK FRAS1 DCLRE1C BTNL2 CFTR NOP10 KNSTRN FOXJ1 PEPD TERT NR5A1 CDON MARS1 BRAF TCF3 NKX2-1 ICOS ZMPSTE24 DNAH11 OSTM1 ALG12 KATNIP AGTR1 PPP1CB BMPR2 CAV1 TGFB1 KPTN ADA TPP2 MKRN3-AS1 SLC25A1 FARSB GPC4 FUZ MYH6 HLA-DPA1 FBLN5 SRP54 TNFSF12 IGHM NEK10 RSPH3 TTC12 CRKL RASGRP1 SELENON PTPN22 DLL3 CLPB DOCK8 GLI3 HPGD THOC2 LOX RBPJ PIGN SMC1A DCLRE1C DNAL1 RIPK1 ZBTB16 CFH BTNL2 GLE1 SFTPC FOXF1 KLRC4 CCND1 CD79A EGFR TNNT2 DNAJC21 IL12A-AS1 IFT80 TSC1 CTSC USP9X MKKS SFTPA2 PIK3R1 CHRNG CITED2 TNFRSF13C ELN ADAMTS2 NR2F2 RSPO2 CFTR SCARB2 NKX2-5 SOX18 ADNP DNMT3B CCR6 TCIRG1 PAX6 STAT4 SETD2 DRC1 CFAP221 C11ORF95 TSC2 IFT172 TNFRSF13C FBN1 ARVCF RNF168 NFKBIA NFKB1 BAP1 NEPRO SLC52A3 PRSS1 SLC26A2 CLIP2 MKS1 GLI1 CRELD1 FGFR3 SFTPC FCN3 NCF2 SIM1 CD28 BAZ1B P4HTM DNAAF3 GAS2L2 CCDC103 UGP2 CEP120 GATA2 ETFB DICER1 IL6 ICOS CDCA7 CDKN2A SIX3 JAGN1 SFTPB DNASE1L3 PPP2R1B MBTPS2 CLCA4 STX1A KIAA0586 AGGF1 BNC1 POU6F2 MYH3 PHGDH STAT3 HRAS SFTPA2 DNAH11 LRRC6 SLC35C1 CDON IL17RC ASXL1 TRIM28 COL3A1 CD79B KDM6A UBB NHP2 NAA10 NCF4 CCDC22 MAGEL2 TBC1D24 PARN NRAS MTHFD1 MYH7 MIR140 BLNK LCK NFE2L2 CSF2RA MYSM1 DNAI1 MYT1L RAG2 CAV1 ZIC2 PRKG1 HACD1 MPLKIP TLL1 PIK3CA NSMCE3 IL10 PRSS2 SMPD1 IFT80 NLRC4 COL6A2 FLNB OFD1 PARN RB1 SCN9A MCTP2 FGF8 MAGEL2 FANCF CORO1A PIK3R1 PRKDC CR2 GBA EP300 TGFBR2 PIK3CD CASP8 CRLF1 PLVAP RAPSN NOTCH1 H19 PTCH1 NCF2 SH3KBP1 CR2 ERBB2 DNAAF1 AGRN RFXANK TDGF1 LGI4 GLE1 IL2RA SOX11 IL2RG MEFV ATM STAT3 ODAD3 SERPINF2 CYBC1 SNAP25 SMPD1 TRPS1 REN SHH ELP1 GLI2 CHRM3 IL2RG PNP GREB1L BACH2 SRSF2 NPHP3 CREBBP RIT1 BGN SH2D1A WIPF1 GATA6 DDR2 CTC1 FAS DYNC2I1 KITLG TBX1 TGIF1 RFX5 DCLRE1C CFAP410 GTF2IRD1 GPKOW FAS DONSON CCNQ ELN FADD SLC5A7 GDF1 ERCC2 TERC CBL ADAMTS3 TBX20 ODAD2 STAT4 SLC29A3 FOXE1 CBL FBN1 DVL3 MALT1 IFT43 DSG1 TECPR2 RTEL1 IPW NGLY1 CYBA PIEZO1 NHP2 EP300 TNFRSF11A DZIP1L CCND1 TLR4 CD81 FAM111B LRRC6 RTEL1 BCORL1 PORCN RAG1 SLC34A2 COPA DICER1 FRAS1 DNAI1 TERC MYPN NFKB1 ODAD2 ITCH TBCD ELANE NPM1 CXCR4 PWRN1 TNFRSF1A FOXP1 MYO9A DNAAF1 TGFB1 RFXAP C4A PML RAG1 TREX1 SMPD1 CREBBP SLC22A18 ELN TSC2 A2ML1 FSHR SETBP1 USB1 NADK2 MS4A1 CHAMP1 TERT NKX2-1 PTPRC SCN10A NEK8 CEP120 SMO CFI LMOD3 ELP1 NAA10 POLR2A NODAL GFI1 PLG RNF113A HSPG2 TBL2 EMG1 SFTPB STK11 SLC7A7 RSPH9 MRPS22 TERC CFAP298 WT1 CD19 RET JAK3 AICDA GLB1 GTF2H5 NIPAL4 PLOD1 MESP2 DYNC2I1 RNU4ATAC ZEB2 TANC2 ITGA3 NBN GNS FOXN1 STAT1 DISP1 B2M
HP:0002094: Dyspnea
Genes 440
TBX20 ELN ND4 TERT CHRNA1 DPM2 NABP1 EDA NUMA1 ORC6 HLA-DRB1 FGFR2 RNU4ATAC FBN1 XYLT1 HBB COL2A1 LAMA3 DSP ZIC3 DNAAF3 TRIP11 TRPV6 TRNE SERPING1 MYL3 TTN CITED2 DBH GATA6 ABCG8 TARDBP MUSK AIMP2 SFTPB SCNN1A EIF2AK4 EPHB4 ORC1 TRNL1 VPS33A STAT5B VCP CCR6 LRP4 ORC1 BMPER GATA4 TSC2 LTBP3 SCNN1G CHRNB1 ORC6 KCNJ6 MUC5B ATP6 PET100 TRAK1 LAMB2 LIFR FIP1L1 FIG4 COQ7 FBP1 MYLK SLC35A1 SOX9 PRPH MMAA VPS33A SCO1 DISC1 TET2 ISCU TGFB2 GLA DNAJC21 CHRNE NUP214 COL13A1 ALAS2 POMT1 RPS28 VAMP1 CHRNB1 SDCCAG8 NAGS SFTPC SCN4A EOMES ACADM ND6 PON1 HLA-B FGFR2 PYGM TRNE TWNK DMPK ATRX FOXP3 COX14 PSAP SLC2A10 SERPINA1 DNAJB6 ENG OPTN CYB5R3 GATA4 DPM1 NKX2-5 TK2 SURF1 HLA-DRB1 TACO1 ND1 TBX4 CDT1 UBE3B MYH11 NEB GBA HBB MYBPC3 USP9X ABCA3 STT3B CYB5A GATA6 CSPP1 TSC1 KRT6B KIF20A GNAS COX6B1 PLCB4 ETFDH TAF15 GNAS PLEC CITED2 LMNA ETFA ATP11A SCN4A IFT81 TRNV NPPA GNAI3 NEFH ALMS1 NKX2-5 CSF2RB PUF60 TRNK SMAD4 TBL1XR1 ACTC1 STT3B SCNN1B ADAMTS13 ABCA3 DPP9 MYL2 SFTPA1 TRPM4 IRAK1 TLL1 APOB FAM20C UNC13A TRIP11 ATXN2 GATA6 CSF2RB CHRND PRRX1 GMNN GTPBP3 CHRNA1 NDUFAF3 ABCA3 BTNL2 PCSK9 TRMU CCNF TET2 TERT ZMPSTE24 MARS1 NKX2-1 ANXA11 DAO SOD1 ACADVL IRF5 MEGF10 MAPT COL1A2 DSC2 EDN1 SLC25A1 EPHA4 MYH6 LDLRAP1 DCTN1 SLC25A4 CNTNAP1 SCN5A SFTPC COL13A1 FGFR1 DPM2 SH2B3 LOX ND3 FAM13A CASR TRMT5 MFAP5 ZBTB16 BTNL2 TRNN CHAT ARX FLNC AIFM1 MRPL3 SFTPC TNNT2 MYH11 NEK1 SLC18A3 TSC1 USP9X SFTPA2 PRRX1 COA3 TGFB3 MUC5B HNRNPA1 NR2F2 CFTR TBK1 SCN4A CHRNE ADNP STAT4 SCO2 SCN5A PON3 SLC52A3 FLNC CRELD1 SFTPC COX7B MAPT LAMC2 COX20 SIK1 JAK2 MMUT ALDH7A1 JPH2 CYB5R3 SLC25A1 FUS ETFB RRM2B SFTPB PMM2 LDLR DNASE1L3 SPP1 TRNS1 ZFPM2 RUNX2 PFN1 VCL SFTPA2 NAGS ASXL1 SCO2 TBC1D24 BMPR2 PARN CSF2RA CHRNE CAV1 PRKG1 CRLF1 PNKD GNAS TLL1 GLE1 COL2A1 KAT6A BCOR MGME1 TNNI3 RARA DOK7 MAT2A SCN1B ORC4 CHRND HLCS PON2 PPARGC1A COX8A MMAB GBA POLG2 DNA2 EFTUD2 SLC12A3 SLC25A3 ACTA2 NDUFB8 GAA FGFR2 CHMP2B COA8 TERT ND5 FBP1 ADCY6 IKZF1 VCP SRP54 AGRN TSC2 CLCNKB CDC6 HCCS COLQ NDUFB11 SNAP25 SMPD1 COX10 MGME1 DHX16 PRKAR1A STAT3 SRSF2 RUNX1 LYRM4 WIPF1 GALC PRRT2 DYNC2LI1 NDUFS2 AGRN SSR4 EPOR PRKCSH CHCHD10 ASAH1 SBDS MPC1 ACVRL1 TET2 LAMB3 SLC5A7 FOXE3 DNA2 CBL TGFBR2 CHAT RAPSN MATR3 CDC45 TBX20 IL1RN CFAP410 IFT52 NOD2 FOXF1 GBA STAT5B C9ORF72 RTEL1 NGLY1 STN1 SQSTM1 PIGT KCNA1 CAV1 KRT16 BMPER KRT17 RPS26 OTX2 TRNW LGI4 CCN2 COPA SMAD3 PRKAR1A MYPN EP300 TGFBR1 TRNK AK9 NPM1 ERF KRT6A GLT8D1 MYO9A IRF2BP2 VAPB STX16 TNNC1 PML ND2 POLG CREBBP KLHL7 ERBB4 UBQLN2 SETBP1 WAS MMUT TREM2 NKX2-1 GATA6 FGFR2 TUBB4A SYT2 TERC ANG CPT2 ABCG5 COA8 PGM1 ITGA3 RNF13 HLA-DRB1 GYG1
Protein Mutations 0
SNP 0