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Report for Clinical Trial NCT03439865

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Ivacaftor for Acquired CFTR Dysfunction in Chronic Rhinosinusitis (Randomized Pilot Study Utilizing Ivacaftor for the Treatment of Refractory Gram-Negative Bacterial CRS)

The purpose of this pilot study is to explore wither ivacaftor in refractory CRS patients will demonstrate safety and tolerability; restore CFTR-mediated Cl- secretions as measured by EDSPD testing; produce detectable improvements in validated measures of CRS including the SNOT-22 questionnaire, Lund-MacKay CT scan grading, and Lund-Kennedy endoscopic scores; and provide beneficial effects on readily measured markers of sinonasal inflammation and infection (IP-10, IL-8, and Pseudomonas CFUs).

NCT03439865 Chronic Rhinosinusitis (Diagnosis)
MeSH: Sinusitis
HPO: Sinusitis

2 Interventions

Name: Ivacaftor

Description: 150 mg tablet PO BID x 14 days

Type: Drug

standard of care treatment + ivacaftor

Name: standard of care treatment

Description: topical nasal steroid spray and culture-directed antibiotics x 14 days

Type: Drug

standard of care treatment standard of care treatment + ivacaftor


Primary Outcomes

Description: Comparison of 22-tem Sino-Nasal Outcomes Test (SNOT-22) scores collected at Screening, Day 1, Day 14, and Day 30. The SNOT-22 is a 22-item questionnaire about rhinosinusitis symptoms and the social/emotional consequences for quality of life. The Likert scale ranges from 1-5, where 1 = "No Problem" and 5 = "Problem as bad as it can be." A total score is collected, ranging from 0-110; the higher the score, the worse the outcome.

Measure: Improvement in quality of life measures

Time: Screening to Day 30

Purpose: Treatment

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 G551D

Other mutations, such as the class III mutation Gly551Asp (G551D), result in adequate levels of CFTR protein at the apical cell surface, but exhibit defective function. --- Gly551Asp ---

Other mutations, such as the class III mutation Gly551Asp (G551D), result in adequate levels of CFTR protein at the apical cell surface, but exhibit defective function. --- Gly551Asp --- --- G551D ---

New compounds such as ivacaftor, which modify channel gating of WT-CFTR, F508del-CFTR, G551D-CFTR and nonsense mutations after induction of translational readthrough (i.e. --- G551D ---

The drug was licensed in 2012 both in the United States and Europe for patients with CF aged six years and over (now 2 years and over) who carry at least one copy of the G551D mutation. --- G551D ---

The efficacy and safety of ivacaftor in CF patients with at least one G551D mutation has been evaluated in two large, multicenter, randomized, double-blind, placebo-controlled trials. --- G551D ---

Since ivacaftor also ameliorates clinical disease of patients with non-G551D gating mutations, the drug does not confer activity to one specific mutation and thus should be effective potentiating ion transport regardless of external influences that impact function of the CFTR. --- G551D ---

Ivacaftor is a CFTR potentiator that has been approved by the FDA for treatment of CF individuals with at least one copy of the G551D mutation. --- G551D ---



HPO Nodes


HPO:
Sinusitis
Genes 149
ATM DNAH9 DNAH11 BLNK CYBB SPAG1 BLNK ARMC4 CYBA DNAAF3 GAS2L2 CCDC151 BTK PSMB9 NCF1 FCGR3A CFAP300 CXCR4 CD79B ZMYND10 IL17RA CD19 RNF168 IRF8 CFAP221 RFX5 WIPF1 DNAI2 LRBA RSPH4A NME8 CCDC114 DNAAF4 TNFRSF13B CCDC65 RPGR DNAAF5 DRC1 LRRC8A ICOS TAP2 CFAP300 TAP1 FOXJ1 WAS DNAI1 DNAAF2 IL2RG IGLL1 CCNO NBN ARMC4 UNC119 RSPH1 RSPH1 TNFRSF13C CCDC39 STK36 RFXANK CTLA4 CD79A MGP CD19 CR2 DNAL1 DNAH1 ZMYND10 LRRC6 RSPH3 RSPH9 IL21R RFXAP NCF2 TAPBP DRC1 WAS CYBC1 PSMB4 HLA-DPA1 RSPH9 CCDC103 DNAAF1 PTPN22 DNAAF3 LRRC56 LRRC6 GAS8 CFAP298 CFAP298 ACP5 CCDC40 HYDIN CCDC65 BTK PGM3 NCF4 PIK3R1 USB1 DOCK8 IKBKB ADA DNAAF2 DNAAF6 GAS2L2 CIITA CCDC39 HLA-DPB1 DNAAF1 ICOS SPAG1 CCDC40 OFD1 RSPH4A CFI BTK IGHM DNAI2 RUNX2 CD79B DNAAF4 SH3KBP1 BLM DNAI1 NME8 DNAAF6 NCF4 IGSF3 TNFRSF13C PNP DNAH5 CCDC114 TTC25 ADA MGP TCF3 DNAJB13 RPGR CCDC103 PRTN3 TTC25 FMR1 SPEF2 IGHM DNAAF5 DNMT3B DNAL1 NFKB2 MCIDAS HYDIN