SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT03592212

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Phosphodiesterase 4 Gene Variant and Salbutamol Response in Persistent Childhood Asthma

This study is designed to investigate whether the Phosphodiesterase 4 gene variability could be implicated in the salbutamol responsiveness in asthmatic children.

NCT03592212 Asthma
MeSH: Asthma
HPO: Asthma

1 Interventions

Name: Salbutamol

Description: Measurement of bronchodilator response (BDR)

Type: Drug


Primary Outcomes

Description: comparison of acute response to salbutamol calculated as the percentage difference between the pre- and post-bronchodilator VEMS value (BDR = 100 x [post-VEMS - pre-VEMS]/pre-VEMS) according to the genotype of the rs1504982

Measure: pre- and post-bronchodilator VEMS value

Time: Day 0

Secondary Outcomes

Description: To identify other SNPs on PDE4 associated with the response (BDR) to salbutamol in childhood asthma.

Measure: Locating other regions of the PDE4 gene that may be associated with the response to salbutamol by gene mapping (using SNP tags)

Time: Day 0

Description: To identify other genes that could be associated with the phenotype of interest (BDR) by tagging other genes.

Measure: Screening other SNPs (other genes than PDE4) associated with the response to salbutamol in childhood asthma using SNP tags

Time: Day 0

Time Perspective: Other

Case-Only


There is one SNP

SNPs


1 rs1504982

comparison of acute response to salbutamol calculated as the percentage difference between the pre- and post-bronchodilator VEMS value (BDR = 100 x [post-VEMS - pre-VEMS]/pre-VEMS) according to the genotype of the rs1504982.



HPO Nodes


HPO:
Asthma
Genes 66
ELOVL4 FLG COL5A1 LIFR COL5A2 TGIF1 LIG4 CDSN ERCC2 BCL11B CARMIL2 COMT SEC24C ALMS1 ARVCF NKX2-1 DOCK8 GLI2 TRAIP NFKB2 CFTR TBX21 SCN4A UFD1 GAS1 PEPD SHH BBS1 GTF2H5 PEX5 CASP8 FGF8 CARD11 FGFR1 TDGF1 PLCG2 LRBA SIK3 COX4I2 IDS PTCH1 RREB1 FOXH1 SIX3 DLL1 ADA SUFU NODAL NSUN2 GRHL2 TALDO1 NEK9 CCDC151 JMJD1C DISP1 TBX1 PGM3 SDHD CDON HIRA ZIC2 GP1BA GP1BB COL1A1 SPINK5 GP9