SNPMiner Trials by Shray Alag


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Report for Mutation E28C

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

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

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 ---

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

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

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

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


SNP 0
HP:0002104: Apnea
Genes 318
TWIST1 LIFR SCN2A GBA NALCN CCDC47 NDUFS1 TMEM231 NDUFAF6 LIPT1 NEFH CTSD GLRA1 GLUL VAMP1 TMEM237 TRPV4 NDUFB8 TCTN3 AFF4 NGLY1 FGFR3 TCF4 SLC6A9 NDUFV1 NDUFS8 PLPBP RPS6KA3 NEB GABRG2 NADK2 KIAA0586 CTNNB1 ECHS1 NDUFA13 PWAR1 SURF1 PCCB PHOX2B ECHS1 NDUFS7 AMER1 TMEM138 PRPH GNE GPR101 LTBP3 SH3BP2 HSPG2 DNA2 NPHP1 ACY1 CSPP1 BRAF PET100 CHRNE PLCB4 NDUFAF2 SLC5A7 B9D1 ND1 BMP2 SLC39A8 COLQ NPAP1 TRIP13 CC2D2A GPR101 GABBR2 PHOX2B P4HTM RARS2 HRAS SCO2 NDUFS2 RET HTRA2 CEP57 USP7 COQ2 INPP5E COL13A1 TMEM107 ZC4H2 TCTN2 TMEM67 PCCA KATNIP NEK1 CRYAB COQ2 AIP KIF5A NDUFAF5 C2CD3 ATP6 GDNF SKI SFTPB NFIX BUB3 GNAI3 RPGRIP1L FLCN ARL3 SCN4A KIAA0586 SLC25A20 RERE TCIRG1 INPP5E NDN TBR1 LIFR NDUFV1 TNFSF11 TCTN1 NDUFA11 TSEN54 DST FOXRED1 ASCL1 CEP120 SLC18A3 ASCL1 SNX10 CEP290 CISD2 CPLANE1 CHAT MYO9A TOE1 CLCN7 TSPYL1 SOX9 MKS1 SDHA AHI1 ARL13B FBP1 TMEM216 HERC2 FARS2 MAGEL2 TECPR2 EDN1 NONO CEP104 ND5 CSPP1 LARP7 LIAS KIAA0586 ZNF423 SNORD115-1 RPGRIP1L SLC19A3 NDUFAF2 TMEM237 MKRN3-AS1 MYO9A RBM10 SCN5A TACO1 TMEM216 CEP57 MECP2 PLCB4 ATN1 GNE AGRN FAM149B1 KCNQ2 INPP5E FGFR3 CEP41 SNAP25 SYT1 GPHN INPP5E CC2D2A MCCC1 EP300 SLC2A1 NDUFA12 PIGT ARMC9 NDUFV2 NDUFS8 SRPX2 UNC80 GNPTAB SNRPN BRAT1 FGFR3 POGZ ACADSB GRIN2A SURF1 PTF1A FGFR2 D2HGDH TMEM237 KIF7 PLAA CEP120 KIAA0753 PEX5 AHI1 PCGF2 DMPK TSPYL1 BTD GBA CEP41 PCK1 SOD1 DKK1 ATP5F1A SYT1 RNF125 NDUFA2 SLC6A5 WFS1 CEP290 CREBBP IDS MKRN3 PRNP EDN3 TMEM67 RPGRIP1L IDUA ARCN1 SLC25A1 PDHA1 KAT6B BUB1B SCN4A DPH1 GSN GNAI3 FBP1 SNORD116-1 PRPS1 COX15 HMGCL PIBF1 NDUFS3 NDUFS2 ND4 NDUFS4 PEX13 OPA1 CHAT NDUFA10 TRNL1 NDUFS1 TMEM216 ND3 SLC5A7 ALPL CPT2 SLC18A3 TRNK TRNW MTFMT ND6 PWRN1 BUB1 ND2 USP7 NDUFA2 NACC1 BRAT1 CSPP1 PIBF1 AHDC1 NDUFAF3 FGFR3 PSAP DNA2 AHDC1 OFD1 RUNX2 NDUFA4 TRNV RET NGLY1 FBN1 DPAGT1 TCF4 MAGEL2 AHI1 MECP2 IPW SKI PDHA1 CPLANE1 ABCA3 RAI1 FGFR2 SYT2 NDUFA9 BTD LAMB2 PRMT7 HYLS1 MKS1 TECPR2 IDUA HSPD1 PDE6D PLAA FXR1 ARMC9 COL3A1 DCTN1