SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT03439865

Developed by Shray Alag, 2019.
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 Chronic Disease
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 + ivacaftor standard of care treatment


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 89
CYBB BLM DNAAF2 UNC119 DNAAF5 DNAAF3 DNAI1 TCF3 SPAG1 CFAP300 PRTN3 ICOS RNF168 FMR1 WAS CCDC103 MGP WIPF1 CD19 RSPH4A USB1 ZMYND10 RSPH1 CIITA FCGR3A HLA-DPA1 DOCK8 HLA-DPB1 DNAAF4 CXCR4 PIK3R1 CCDC114 RFXANK IGHM ACP5 CYBC1 BTK IL21R NFKB2 NCF1 PSMB4 DNAI2 BLNK IRF8 PSMB9 TNFRSF13C LRRC8A TNFRSF13B NBN DRC1 CD79A CD79B PIH1D3 PTPN22 NCF2 NCF4 TTC25 CTLA4 IL17RA IGLL1 RPGR LRRC6 ATM DNAL1 ARMC4 LRBA RUNX2 IKBKB DNAAF1 CFI ADA CR2 CCDC65 IL2RG RFX5 RFXAP TAP1 TAP2 CFAP298 TAPBP RSPH9 CCDC39 HYDIN NME8 IGSF3 PNP CCDC40 DNMT3B CYBA