SNPMiner Trials by Shray Alag


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Report for Mutation E28A

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Sodium Channel Splicing in Heart Failure Trial

The purpose of this research is to see if investigators can detect truncated mRNA splice variants of the cardiac voltage-gated sodium (Na+) channel gene, SCN5A, in patients with a weak heart (Heart Failure) with or without an implantable cardioverter-defibrillator (ICD) and compare them to patients with a normal heart. Hypothesis: 1. Patients with reduced left ventricular ejection fraction have increased abundances truncated mRNA splice variants of the SCN5A gene, which portends to sodium channel dysfunction and an increased risk for sudden cardiac death. 2. Patients with implantable cardioverter-defibrillator devices (ICDs) who have experienced shock therapy have increased abundances of truncated mRNA splice variants of the SCN5A gene compared to similar congestive heart failure patients who have not experienced shock therapy.

NCT01185587 Atrial Fibrillation Atrial Flutter Heart Failure
MeSH: Heart Failure Atrial Fibrillation Atrial Flutter
HPO: Atrial fibrillation Atrial flutter Congestive heart failure Left ventricular dysfunction Paroxysmal atrial fibrillation Right ventricular failure

Relative levels of the full length mRNA isoform, E28A, were decreased by 24.7% in patients with CHF compared to control. --- E28A ---

Previously, we showed that the least sensitive measure was a reduction in E28A abundance by 24%. --- E28A ---

Primary Outcomes

Description: We will correlate the amount of white cell Na+ channel splice variants with ejection fraction in patients with an without heart failure and with the number of shocks in the patients with ICDs.

Measure: Amount of sodium channel splice variants

Time: At enrollment

Secondary Outcomes

Description: upstream signals for abnormal SCN5A mRNA splicing

Measure: ACE mRNA

Time: At enrollment

Description: upstream signals for abnormal SCN5A mRNA splicing

Measure: Ang II mRNA

Time: At enrollment

Description: upstream signals for abnormal SCN5A mRNA splicing

Measure: HIF-1α mRNA

Time: At enrollment

2 Sodium Channel Splicing in Obstructive Sleep Apnea (SOCS-OSA)

This study is designed to test whether SCN5A mRNA processing is altered in OSA patients, which may contribute to their increased arrhythmic risk, and whether processing of SCN5A mRNA is modulated by CPAP treatment. Specific aims: 1. Compare sodium channel splicing variants in mild, moderate, or severe OSA patients at baseline to at 1 month after CPAP treatment. In addition, the baseline splicing variants of SCN5A in the OSA patients will be compared to an age-matched control group. 2. Hypoxia-associated upstream regulators of SCN5a mRNA splicing, Hypoxia-inducible factor 1-alpha (HIF-1α), RNA Binding Motif Protein 25 (RBM25) and LUC7-Like 3 Pre-MRNA Splicing Factor (LUC7L3), will be examined in OSA patients before and after 1 month of CPAP treatment.

NCT02725632 Sleep Apnea Syndromes Device: CPAP
MeSH: Apnea Sleep Apnea Syndromes Sleep Apnea, Obstructive
HPO: Apnea Obstructive sleep apnea Sleep apnea

The full length SCN5A mRNA (E28A) was decreased by 24.7% in patients with CHF compared to control. --- E28A ---

Primary Outcomes

Measure: The levels of sodium channel splicing variants that are related to the severity of OSA, change from baseline to one month after CPAP treatment.

Time: Four weeks

Secondary Outcomes

Measure: The levels of potassium channels that are related to the severity of OSA, change from baseline to one month after CPAP treatment.

Time: Four weeks


HPO Nodes


Obstructive sleep apnea
Genes 35
AGRN SLC18A3 IDS SYT2 CCDC47 NFIX HRAS NGLY1 SLC25A1 POGZ PCGF2 DNA2 SNAP25 CHAT SH3BP2 IDUA FGFR3 EP300 TRPV4 CREBBP SKI DNA2 IDUA PLCB4 SLC5A7 GNAI3 AHDC1 COL13A1 NONO ARCN1 EDN1 VAMP1 BMP2 ATN1 MYO9A
Congestive heart failure
Genes 250
PTEN HJV BAZ1B PEX7 HBA1 ND1 TNNT2 TRIM37 ACAD9 AGPAT2 TRNS1 LMNA EYA4 ND4 MYH7 LMNA RFC2 DSP NDUFAF3 TMEM43 SF3B1 HADHB SLC25A11 COX2 ENG HBA2 CEP19 LMNA TRNQ TRNQ GTF2IRD1 IDS MYL3 MYH7 ATXN7 ND6 HNRNPA1 CACNA1S FLNC XYLT2 EPG5 BSCL2 MYH6 FBN1 TRNK GBA SLC2A10 TRNV COX3 RET PRKAR1A MDH2 TRNK IRF5 MYH7 GPR35 TRNL1 ENG SURF1 STAT1 NSMCE2 SGCD ATP5F1A PLN TUBB PLOD1 CAV3 SLC25A26 SLC19A2 MYD88 GLA TPM1 GNPTAB RBM20 LMNA CDH23 TRNW CLIP2 MYPN TSC1 BMP2 HAMP TRNF ADCY5 LMNA LDB3 TTN ELN ENPP1 CAVIN1 TF MAX ELAC2 NDUFS2 CYTB DES DMD MYLK2 MAX TBL2 HLA-DRB1 ALMS1 PNPLA2 SLC17A5 COG7 SLC22A5 MYH7 PSMB8 SCN1B EYA4 MST1 FH TMEM127 MYH7 ND6 PPARG SDHA MAPRE2 COX1 JUP PSEN2 RASA1 ND5 SLC25A3 LMNA DLST TRNF IFIH1 ADCY5 SDHB SCN4A FXN GDF2 GTF2I HADHA GJA1 GNA11 RYR1 HFE SNAP29 TRNH TNNI3K FLNA TRNS2 SDHAF2 LMNA ACVRL1 TSC2 CASR FOS FGFR3 TRNK TRNL1 BCHE CCR6 CAV1 FGF23 VHL TMEM70 ADAMTSL2 DTNA PRKAG2 BAG3 TRNE SMAD4 TRNS2 ACAD9 SDHC PRKAR1A TAZ CAV1 ALMS1 TRNS1 NDUFB8 LIMK1 CLIC2 GATAD1 SDHD NDUFAF1 PRDM16 SELENON TRPM4 ACTC1 PRKAR1A SCN5A RPS19 TRIP4 FBLN5 SDHB NDUFB11 ATP6V1A HNRNPA2B1 CCN2 PSMB8 PPA2 TRNL1 COX1 RAB3GAP2 TNNI3 HFE COL1A2 TRNC CLIC2 DSP ND1 SCO2 JUP SDHD TRNW COX3 EFEMP2 AGGF1 TMEM127 TCF4 LMNA DSP KIF1B COL1A1 COX2 TPI1 GNPTAB FGD1 PSEN1 RET GLB1 KCNJ5 PHYH DES GTPBP3 HADHB WRN ND5 MECP2 HADHA GDNF VCL GLA TTN KIF1B VHL VCP ABCC6 PPARG CP XYLT1 TET2 DNAJC19 IKBKG NKX2-5 ABCC6
Atrial flutter
Genes 16
SGO1 LMNA ACADL CLIC2 DMPK LMNA GATA4 SCN5A TNNI3K SCN3B CLIC2 GATA6 CRELD1 NUP155 SCN5A NR2F2
Paroxysmal atrial fibrillation
Genes 12
KCNJ5 SCN5A CSRP3 KCNA5 KCNJ2 SCN2B MYL4 ABCC9 TBX5 KCNE2 SCN1B PRKAG2
Sleep apnea
Genes 96
SNRPN SNORD116-1 NDN CCDC47 PRPH SRPX2 CEP57 MAGEL2 FGFR2 MKRN3-AS1 SLC25A1 FGFR3 CTNNB1 RERE PCGF2 DNA2 SNAP25 RET IPW MAGEL2 SH3BP2 EP300 PWAR1 TCF4 NPAP1 SLC52A2 FLCN LARP7 FGFR3 GABRG2 SLC52A3 SYT1 GPR101 DNA2 NGLY1 PLCB4 COQ2 GPR101 MKRN3 TWIST1 AHDC1 COL13A1 P4HTM ARCN1 SOD1 GSN COLQ ASCL1 ATN1 MYO9A AGRN RUNX2 COQ2 GRIN2A NADK2 DCTN1 SLC18A3 IDS SYT2 SNORD115-1 RAI1 NFIX HRAS NGLY1 LTBP3 PRPS1 TSPYL1 POGZ CHAT IDUA FGFR3 AIP FGFR2 TCF4 TRPV4 GNE BRAF PWRN1 FGFR3 CREBBP SKI PHOX2B IDUA DKK1 COL3A1 LAMB2 SLC5A7 GNAI3 GNE RPS6KA3 NONO HERC2 EDN1 VAMP1 BMP2 NEFH
Apnea
Genes 319
ACY1 KCNQ2 SNORD116-1 ND5 PLAA CPLANE1 PRPH NDUFA4 PDE6D TRNW ECHS1 ND6 COX15 DNA2 KIF7 CHRNE TRNV ND4 NDUFS8 ARL3 SLC2A1 NDUFAF3 TCTN1 MCCC1 NDUFS3 GPR101 MKRN3 GLRA1 CEP290 GBA CSPP1 SOD1 SURF1 GSN COLQ FBP1 PCK1 ASCL1 ATN1 MYO9A NDUFS4 AGRN TMEM216 TRNQ ASCL1 GABBR2 SLC19A3 GDNF SLC25A20 NADK2 SLC18A3 HMGCL SCN4A RPGRIP1L IDS SLC39A8 NGLY1 LTBP3 CC2D2A PRPS1 NDUFS7 MECP2 HTRA2 TECPR2 FGFR3 INPP5E FGFR2 TSEN54 BRAF PWRN1 FGFR3 ND2 DKK1 MKS1 WFS1 INPP5E PLPBP EDN3 RPGRIP1L SURF1 PCCB AMER1 TRIP13 CCDC47 CEP57 PHOX2B CLCN7 PTF1A CTNNB1 BTD TRNF PLCB4 BTD NDUFS2 EP300 OFD1 BUB1B OPA1 PSAP FLCN TMEM67 GABRG2 SYT1 NDUFS2 COQ2 KAT6B BUB3 NDUFS1 TWIST1 HYLS1 AHDC1 CEP104 TMEM216 RET RUNX2 ZNF423 TCTN3 SNORD115-1 RAI1 CSPP1 PIBF1 TSPYL1 PDHA1 MKS1 TSPYL1 MYO9A FAM149B1 TMEM237 NDUFAF2 BRAT1 ND6 SCN2A NDUFS1 IDUA AIP SKI GNE ACADSB CEP41 ND5 ECHS1 GPHN LAMB2 SLC5A7 CTSD KIF5A ALPL RPS6KA3 NONO HERC2 LIFR BRAT1 NDUFA11 TMEM138 CC2D2A SNRPN LIFR TMEM67 TNFSF11 SRPX2 KIAA0586 ATP5F1A NDUFA2 RPGRIP1L FGFR2 KIAA0586 FGFR3 TRNH SNAP25 RET RARS2 ND3 IPW MAGEL2 SCN5A SLC6A5 BUB1 INPP5E NPAP1 TCTN2 LARP7 FGFR3 B9D1 NDUFV1 SLC52A3 TRNL1 DNA2 PRNP ND4 NGLY1 CEP120 PEX5 SDHA INPP5E P4HTM ARCN1 SLC18A3 NDUFAF6 ABCA3 NDUFA2 ARMC9 COQ2 GRIN2A TMEM237 DCTN1 SFTPB TACO1 HSPD1 KIAA0753 NDUFAF2 TRNS2 CEP290 SCN4A SNX10 CEP41 PIBF1 NDUFA10 NDUFV2 CHAT CISD2 NDUFAF5 FARS2 TRNS1 KIAA0556 NDUFB8 CHAT RNF125 TMEM107 TCF4 NDUFV1 TRPV4 TOE1 PHOX2B IDUA GNAI3 TRNL1 EDN1 VAMP1 TMEM231 CPT2 DPAGT1 ND1 LIPT1 HSPG2 NDN COX1 MECP2 FBN1 KIAA0586 MAGEL2 CEP120 TMEM216 MKRN3-AS1 SLC25A1 SLC5A7 RERE PCGF2 NDUFA12 AHI1 NDUFA13 ND1 GLUL TMEM237 SH3BP2 D2HGDH SCO2 PWAR1 TCF4 AHI1 ARMC9 SLC52A2 GNAI3 NDUFA9 NEK1 TRNW COX3 RBM10 SLC6A9 LIAS GPR101 AHI1 PLCB4 TRNK COL13A1 COX2 SOX9 MTFMT PDHA1 TECPR2 SYT2 NFIX HRAS PLAA POGZ NPHP1 DST PET100 TCIRG1 PCCA NEB GBA CEP57 CPLANE1 FOXRED1 TBR1 CRYAB ATP6 CREBBP SKI PEX13 ARL13B COL3A1 GNE ZC4H2 CSPP1 FBP1 BMP2 NDUFS8 NEFH