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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation E28D

Developed by Shray Alag, 2020-2021.
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

These three splicing variants for the nonfunctional sodium channel gene product were denoted E28B, E28C, and E28D. --- E28C --- --- E28D ---

At the same time, the E28C and E28D mRNA abundances were increased 14.2 fold and 3.8 fold respectively in CHF patients compared to controls. --- E28C --- --- E28D ---

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

Three truncated SCN5A mRNA splicing variants were identified (denoted variant B (E28B), variant C (E28C), and variant D (E28D)). --- E28C --- --- E28D ---

Among them, E28C and E28D abundances were increased 14.2 fold and 3.8 fold respectively in CHF patients compared to controls. --- E28C --- --- E28D ---

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 264
TLL1 DSP PLN SLC25A26 BSCL2 DSP NDUFB11 ACTC1 RET TRNL1 JUP CAV1 TRNK SGCD ACTC1 KCNJ5 GTF2IRD1 TRNC FXN WRN HBA2 TTN CAVIN1 VHL ATP6V1A PPA2 FGFR3 MYH7 TRNS2 EYA4 PLOD1 LMNA BMP2 KIF1B SLC2A10 NDUFB8 GNA11 CACNA1S ND1 HADHA TCF4 GAA TRNK VCL GATA6 TBL2 MYL3 PLOD1 ABCC6 GNPTAB SDHD STRADA PNPLA2 ENG LMNA CLIP2 RFC2 TAZ TPI1 COL1A2 BAG3 LIMK1 DSP GTPBP3 DES IRF5 NDUFAF1 ELN SELENON PSMB8 HJV MYD88 MYH6 AGGF1 EYA4 ATP5F1A TET2 ND6 HFE DMD MST1 MAPRE2 DLST DNMT3A TNNI3K TUBB TNNT2 EFEMP2 TRIP4 DNAJC19 XYLT1 TRNQ SDHB GDNF ADCY5 EPAS1 GDF2 PRKAG2 PSEN2 CCR6 AFF4 COL1A1 CDH23 CITED2 ENPP1 RAB3GAP2 BCHE FLNC GLA SF3B1 TRNW HADHA DES IFIH1 MECP2 TMEM70 GATAD1 ACAD9 HBB ACVRL1 HADHB MTTP RASA1 TMEM127 FGF23 NF1 PRDM16 SDHAF2 PRKAR1A FGD1 LMNA NDUFAF3 TNNI3 RBM20 VHL IKBKG VPS33A XYLT2 MYH6 SDHD TRPM4 GLB1 ALMS1 SDHD COX1 TPM1 AGPAT2 SCN5A CLIC2 SCO2 LMNA CAV1 SDHA LMNA HAMP RYR1 CASR MYH7 TRIM37 KIF1B LMNA PTEN SURF1 ACTN2 MYH7 RET LMNA ATXN7 LMNA SLC19A2 GTF2I RPS19 MYH7 TRNF STAT1 GTPBP3 PPARG TRNV TMEM127 LDB3 MAX TBX20 TRNS1 COX2 MDH2 SCO1 MYLK2 GJA1 HFE NDUFS2 GK TTN ELAC2 HNRNPA2B1 IDS TBX20 TRNE MAX NSMCE2 ACAD9 TRNK CYTB GATA4 ND5 GLA ADCY5 HBA1 HADHB SNAP29 MYH7 NKX2-5 SLC22A5 SDHC HBB CITED2 HLA-DRB1 HNRNPA1 ABCC6 SDHB SLC25A3 ALMS1 CP VCP SCN4A HBB FH FBN1 DTNA FOS PRKAR1A TF SDHB COG7 VHL TLL1 PPARG FLNA ENG PSEN1 CCN2 MYPN GPR35 BAZ1B JUP EPG5 SLC25A11 RET CLIC2 COX3 FBLN5 SLC17A5 CAV3 NKX2-5 CEP19 TMEM43 PEX7 SMAD4 PHYH CYTB SCN1B MYSM1 ADAMTSL2 PRKAR1A TRNL1
HP:0002104: Apnea
Genes 425
TGIF1 TNFSF11 TRNK MAGEL2 PET100 GLRA1 GNE CSPP1 HSPG2 NODAL GNE MAGEL2 TECPR2 BRAF D2HGDH FGFR3 SHH ARL3 NGLY1 LARP7 ND1 BCHE CTNNB1 SLC5A7 PTF1A SCN5A OCA2 NDUFA2 NDUFAF2 CEP120 NEB RPS6KA3 NDN TSEN54 BUB1B FGF8 GAS1 PRPS1 SIM1 FOXH1 CPLANE1 RET SDHA PLCB4 LAMB2 CEP290 TCIRG1 DST ARMC9 CEP41 DLL1 CSPP1 SIX3 MYO9A GABRG2 COL3A1 PEX13 MTHFR DCTN1 PIBF1 FOXH1 SURF1 P4HTM ND4 MECP2 FGFR3 SLC25A20 NDUFS8 CDON COLQ KIAA0586 BRAT1 CC2D2A PLPBP GAS1 PCK1 CREBBP FBP1 NPAP1 SOX9 PCCA FGFR2 AHI1 CDON PHOX2B SLC5A7 INPP5E VPS51 SHH USP7 DISP1 TRNV NDUFAF6 STAT2 ZIC2 SNORD115-1 SH3BP2 DISP1 CHRNE TOE1 FGFR2 DNA2 MKRN3-AS1 GSN FOXH1 LIFR TDGF1 TMEM216 COX15 NDUFA12 HRAS NGLY1 GLI2 FGF8 CDKL5 INPP5E KATNIP SNRPN NADK2 GPHN KIAA0753 SCO2 FGFR1 MKS1 ND5 BTD PWRN1 IPW ASCL1 AP3D1 HTRA2 TMEM216 SCN4A DISP1 GNAI3 STAG2 GPR101 SIX3 KIAA0586 SNRPN SLC19A3 SCO1 TSPYL1 UNC80 ACADSB SCN2A KCNQ2 ZIC2 MECP2 PRMT7 KCNQ3 ND3 PDHA1 SNX10 TERT FGF8 KIAA0586 SHH NDUFS2 NDUFS1 AMER1 CREBBP KIF7 OCA2 HSPD1 NODAL SKI KIF5A CEP57 CEP57 PTCH1 ZIC2 SYT1 ECHS1 CEP120 TRPV4 PURA DLL1 NDUFV1 HMGCL SATB2 RERE TWIST1 NDUFA13 GABBR2 MAGEL2 NDUFA4 PLAA OFD1 CDON SLC6A9 ECHS1 HYLS1 PTCH1 STXBP1 NACC1 GLI2 PWAR1 PLCB4 TCF4 TACO1 AGRN IDUA TCTN2 NDUFS3 PRRT2 LIPT1 SLC18A3 NDN MKRN3 TRNL1 IDS FGFR1 RAI1 TBR1 OCA2 PCGF2 FLCN COQ2 DKK1 LIFR VAMP1 NDUFA11 NONO NDUFA10 CCDC47 ND2 IDUA FGFR3 RPGRIP1L SFTPB ATP5F1A ASCL1 FBN1 ZNF423 NDN SLC2A1 SYT1 CLCN7 KCNQ2 NTNG1 SPOP NDUFB8 CREBBP TMEM237 BUB1 NDUFS7 PDE6D TMEM231 ACY1 TMEM237 NEK1 PIGT TSPYL1 NDUFS8 NDUFAF5 SNORD116-1 PLAA CEP104 PEX5 MCCC1 SLC6A5 CTSD SIX3 LTBP3 EP300 GLI2 ABCA3 RPGRIP1L FAM149B1 SOD1 KCNQ3 FARS2 DNA2 MAGEL2 BRAT1 ATN1 DPAGT1 TMEM107 TCTN1 CDON SRPX2 GNAI3 IDS NDUFV1 SLC39A8 FOXRED1 GABBR2 LRRC32 TMEM216 CISD2 ZIC2 AFF4 GPR101 ADGRG1 EDN3 FOXH1 NDUFA2 EDN1 RARS2 NDUFV2 ARCN1 SCN8A FBP1 GNPTAB FGF8 SNRPN TCF4 ZC4H2 TGIF1 TMEM237 POGZ NDUFAF3 NDUFAF2 CPLANE1 TCTN3 TRNW SMC1A MTFMT SCN4A CHAT TDGF1 SCN2A SLC25A1 PTCH1 RPGRIP1L PRNP GLI2 PDHA1 GAS1 GAS1 DMPK MKS1 SURF1 NDUFS1 PSAP COQ2 ARL13B TGIF1 GLUL AHI1 MAGEL2 GBA KAT6B PI4KA MYO9A ARMC9 RUNX2 GRIN2A PTCH1 COL13A1 SLC18A3 OPA1 TDGF1 AHI1 CSPP1 NFIX AIP NDUFS2 TMEM138 TGIF1 IDS NDN PIBF1 PCCB KCNQ2 NEFH SKI INPP5E NDUFA9 NPHP1 TECPR2 ALPL TDGF1 RET DLL1 SNRPN SHH PHOX2B CPT2 DPH1 CEP290 SIX3 GBA TMEM67 BMP2 CEP41 HERC2 C2CD3 SRPX2 STAG2 SYT2 B9D1 BUB3 ND6 RBM10 FGFR3 EP300 CRYAB MAGEL2 TRIP13 NDUFS4 CC2D2A FXR1 AHDC1 FXR1 INPP5E RNF125 LIAS AHDC1 MECP2 WFS1 NODAL SNAP25 GDNF DLL1 USP7 ATP6 NODAL PRPH TMEM67 CHAT NALCN DISP1 BTD