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SNPMiner SNPMiner Trials (Home Page)


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
Conditions
  1. Atrial Fibrillation
  2. Atrial Flutter
  3. Heart Failure
MeSH:Heart Failur Heart Failure Atrial Fibrillation Atrial Flutter
HPO:Abnormal left ventricular function Atrial fibrillation Atrial flutter Congestive heart failure 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
Conditions
  1. Sleep Apnea Syndromes
Interventions
  1. 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


HP:0001635: Congestive heart failure
Genes 261
TBX20 RAB3GAP2 AGPAT2 FLNC LDB3 TMEM127 FOS COG7 PHYH HFE PRKAR1A GNPTAB KCNJ5 LIMK1 TRNK RBM20 PPARG SDHAF2 HBB STAT1 HADHA VHL FGFR3 PRKAG2 ENPP1 RET CAV3 SELENON EYA4 PNPLA2 PRKAR1A SCO2 LMNA RYR1 FBN1 MYL3 HJV ELAC2 TMEM43 TRNL1 CITED2 DES ABCC6 CLIP2 COX3 CYTB JUP TPI1 ADCY5 PSEN1 FH GDF2 DSP ELN TTN IKBKG GJA1 BAZ1B HNRNPA1 GPR35 COL1A1 CCR6 TRNQ AFF4 RFC2 GTF2I TTN GATA4 CACNA1S GLB1 TNNI3 AGGF1 SF3B1 CAVIN1 PLN TRNF TNNI3K TCF4 VCL TUBB RET ATXN7 LMNA LMNA GTPBP3 XYLT2 SDHB FBLN5 HBA1 MYH7 TMEM127 KIF1B DES HADHB DNMT3A VPS33A CAV1 CDH23 TLL1 EPG5 ATP6V1A GLA BMP2 EFEMP2 SLC25A11 HADHB ACTN2 ND1 PSMB8 SCN1B CP TMEM70 MYD88 HBB SMAD4 ALMS1 MTTP MAX ACAD9 VHL SLC25A3 FGD1 NDUFB8 TRNW HBA2 SDHD BCHE WRN SLC2A10 TRNS2 CYTB ENG SDHB NDUFB11 LMNA DMD COX2 CAV1 NKX2-5 LMNA SURF1 HLA-DRB1 GATAD1 SDHC PRKAR1A TRNK PRDM16 TNNT2 GNA11 IFIH1 ABCC6 HBB MDH2 NDUFS2 TRNV SDHA ACAD9 FXN SLC25A26 SLC19A2 GTF2IRD1 RPS19 GLA PPA2 MYPN EYA4 CITED2 DTNA MAX NF1 LMNA XYLT1 ND6 SNAP29 TBX20 DSP MST1 FLNA DLST MYH7 MYH7 ADAMTSL2 MYH7 VCP SCN4A ALMS1 NKX2-5 GDNF HFE TF MECP2 BAG3 HAMP TRNK TET2 ACTC1 RASA1 LMNA LMNA MYH6 TRPM4 TRIM37 SDHD TLL1 TRNC STRADA CCN2 HNRNPA2B1 MYH7 TAZ RET CLIC2 SGCD GTPBP3 PEX7 SDHB TRIP4 MYSM1 TPM1 NDUFAF3 PTEN CEP19 SDHD NDUFAF1 FGF23 EPAS1 ND5 SLC17A5 HADHA GATA6 BSCL2 ATP5F1A ACVRL1 CLIC2 IRF5 ACTC1 TBL2 MAPRE2 JUP CASR KIF1B VHL NSMCE2 TRNL1 ADCY5 DNAJC19 DSP MYLK2 PLOD1 COX1 MYH6 COL1A2 IDS PPARG ENG SCN5A GBA TRNS1 PSEN2 SLC22A5 TRNE
SNP 0
HP:0002104: Apnea
Genes 406
ZIC2 SH3BP2 SNX10 ND4 POGZ NDUFA10 GPR101 NODAL PRNP CTNNB1 FGFR3 NDUFA2 SIX3 SYT1 FGFR3 NDUFS1 DKK1 FGFR3 SYT1 BMP2 RNF125 TSEN54 TRIP13 DISP1 GAS1 FOXH1 TCTN3 BTD MAGEL2 ASCL1 PTF1A TRNL1 CREBBP TNFSF11 HYLS1 CPLANE1 DLL1 AHDC1 SLC25A20 KIAA0586 SIX3 AHDC1 BTD PLPBP MCCC1 NACC1 SCN5A LTBP3 DCTN1 ATP5F1A PRPS1 FOXH1 ATP6 CDON LAMB2 TOE1 TCF4 GNAI3 HERC2 TMEM67 INPP5E LIFR GAS1 FBP1 PWAR1 SOX9 KIF5A TWIST1 TMEM216 TMEM67 SPOP NODAL PEX13 SCN4A VAMP1 TCTN1 SHH FAM149B1 DISP1 MECP2 ECHS1 ND6 RBM10 SCN2A NDUFV1 AIP GLI2 TMEM107 NPAP1 DISP1 TSPYL1 ACADSB PLCB4 SLC18A3 SNORD116-1 SRPX2 FGF8 KCNQ2 TDGF1 KIF7 NPHP1 NDUFA13 LIPT1 GLI2 FGF8 STXBP1 RPGRIP1L CEP41 OPA1 MYO9A IDUA ARMC9 PDHA1 AHI1 IDUA RARS2 SURF1 MECP2 FGFR1 CREBBP NDUFAF2 ARL13B ND1 GNPTAB ABCA3 GABBR2 MKRN3 SCN4A SNORD115-1 WFS1 SRPX2 ATN1 CSPP1 GBA CDON PLCB4 PLAA STAG2 SIX3 CEP104 GNE NGLY1 DST RAI1 TRNV GNAI3 SCN2A RERE PLAA ZIC2 KCNQ2 NDUFS7 NEK1 USP7 FGF8 TMEM231 STAT2 CSPP1 SHH TSPYL1 SURF1 SLC6A9 RET CPLANE1 STAG2 PCGF2 KCNQ3 NODAL SKI BUB1B PTCH1 ZIC2 PRMT7 MTFMT PIBF1 FGFR2 GAS1 PSAP NDUFS3 HMGCL NDUFA11 NDUFAF3 RPS6KA3 HTRA2 NDN NDUFA12 NDUFA9 FLCN TMEM216 CDON TECPR2 NDUFA4 ARL3 SLC6A5 PTCH1 GABBR2 GLI2 MKRN3-AS1 CRYAB EDN1 CCDC47 TCF4 NDUFV2 SLC25A1 MTHFR COQ2 AHI1 ARCN1 FXR1 COX15 PRRT2 NDUFA2 COL13A1 SNRPN DPH1 BUB3 ND3 SMC1A NALCN LARP7 CHAT PCCA SLC18A3 ASCL1 NDUFAF6 PHOX2B TMEM237 GDNF FBN1 TMEM138 TCIRG1 KCNQ2 CDKL5 SLC5A7 SCO2 AMER1 TMEM216 CEP57 NDUFS1 KIAA0753 ZNF423 GPHN CEP41 PIGT DPAGT1 NDUFS2 KIAA0586 NDUFS8 SIM1 BRAT1 CEP120 BRAF D2HGDH P4HTM KATNIP AFF4 LIAS SIX3 SFTPB TDGF1 KAT6B RUNX2 OFD1 USP7 SOD1 KCNQ3 SLC39A8 SLC2A1 HRAS KIAA0586 CTSD B9D1 CDON ADGRG1 TBR1 PDHA1 MAGEL2 CEP290 AHI1 CC2D2A PIBF1 BCHE CHRNE ZIC2 PI4KA FXR1 HSPD1 NONO FOXH1 NDUFAF5 NFIX FGFR3 ECHS1 NDUFS4 SCN8A FGF8 PHOX2B MAGEL2 ACY1 EP300 GLRA1 DNA2 TGIF1 NDUFB8 SDHA NDUFV1 CSPP1 PDE6D TERT ND5 PTCH1 FBP1 FOXRED1 AGRN TDGF1 VPS51 COLQ SNAP25 SHH CC2D2A C2CD3 GLI2 ARMC9 GAS1 INPP5E NDUFS2 SLC19A3 GNE INPP5E TGIF1 NEB MKS1 LIFR TRPV4 SLC5A7 DNA2 SKI NDUFS8 GABRG2 PTCH1 CHAT FOXH1 GBA TMEM237 TGIF1 CLCN7 TECPR2 IPW TCTN2 NGLY1 NEFH BRAT1 TACO1 GLUL ALPL RPGRIP1L PET100 TDGF1 FARS2 TRNW DLL1 SHH RET TGIF1 EP300 RPGRIP1L TRNK CEP120 HSPG2 INPP5E PWRN1 GRIN2A FGFR1 MYO9A TMEM237 BUB1 ND2 FGFR2 CREBBP PCCB NDUFAF2 CEP290 NADK2 NTNG1 CISD2 NODAL MECP2 SYT2 EDN3 DLL1 COQ2 GSN CPT2 DMPK ZC4H2 PEX5 GPR101 COL3A1 PCK1 DLL1 PRPH IDS CEP57 MKS1 UNC80 DISP1