SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT01429597

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Fabry and Cardiomyopathy (FaCard) Epidemiological Study for the Analysis of Biomarkers and the Clinical Course of Patients With Fabry Disease and the N215S-mutation AN INTERNATIONAL,MULTICENTER, EPIDEMIOLOGICAL STUDY

Primary objective and endpoint is the analysis of the long-term course of lyso-Gb3 and its clinical correlation to the progression of the cardiomyopathy in N215S-Fabry patients.

NCT01429597 Cerebrovascular Accident Stroke, Acute Cerebral Stroke
MeSH: Stroke Cardiomyopathies Fabry Disease
HPO: Angiokeratoma corporis diffusum Cardiomyopathy Stroke


Primary Outcomes

Measure: analysis of the long-term course of lyso-Gb3 and its clinical correlation to the progression of the cardiomyopathy in N215S-Fabry patients

Time: 24 month

Time Perspective: Prospective

Cohort


There are 3 SNPs

SNPs


1 A143T

Besides for instance R112H, A143T and R227X, also N215S belongs to this group (Dobrovolny et al., ASHG Abstract, 2008). --- R112H --- --- A143T ---


2 N215S

Fabry and Cardiomyopathy (FaCard) Epidemiological Study for the Analysis of Biomarkers and the Clinical Course of Patients With Fabry Disease and the N215S-mutation AN INTERNATIONAL,MULTICENTER, EPIDEMIOLOGICAL STUDY. --- N215S ---

Fabry and Cardiomyopathy (FaCard) Primary objective and endpoint is the analysis of the long-term course of lyso-Gb3 and its clinical correlation to the progression of the cardiomyopathy in N215S-Fabry patients. --- N215S ---

analysis of the long-term course of lyso-Gb3 and its clinical correlation to the progression of the cardiomyopathy in N215S-Fabry patients. --- N215S ---

Inclusion Criteria: - All patients of both gender from 18 years of age with a diagnosis of Fabry disease with the mutation N215S - Written informed consent from patient Exclusion Criteria: - Patients without a diagnosis of Fabry disease - No written informed consent Inclusion Criteria: - All patients of both gender from 18 years of age with a diagnosis of Fabry disease with the mutation N215S - Written informed consent from patient Exclusion Criteria: - Patients without a diagnosis of Fabry disease - No written informed consent Cerebrovascular Accident Stroke, Acute Cerebral Stroke Stroke Cardiomyopathies Fabry Disease Fabry disease is an X-linked lysosomal disorder that leads to excessive deposition of neutral glycosphingolipids in the vascular endothelium of several organs in the body. --- N215S ---

Inclusion Criteria: - All patients of both gender from 18 years of age with a diagnosis of Fabry disease with the mutation N215S - Written informed consent from patient Exclusion Criteria: - Patients without a diagnosis of Fabry disease - No written informed consent Inclusion Criteria: - All patients of both gender from 18 years of age with a diagnosis of Fabry disease with the mutation N215S - Written informed consent from patient Exclusion Criteria: - Patients without a diagnosis of Fabry disease - No written informed consent Cerebrovascular Accident Stroke, Acute Cerebral Stroke Stroke Cardiomyopathies Fabry Disease Fabry disease is an X-linked lysosomal disorder that leads to excessive deposition of neutral glycosphingolipids in the vascular endothelium of several organs in the body. --- N215S --- --- N215S ---

Summarizing, newborn screening identified a surprisingly high frequency of Taiwanese males with Fabry disease (approximately 1 in 1,250), 86% having the IVS4+919G>A mutation previously found in later-onset cardiac phenotype patients.The late-onset mutation N215S is discussed to be a so-called cardiac variant (Perry Elliott, 2006; Eng et al., 1993, Sachdev et al., 2002). --- N215S ---

Besides for instance R112H, A143T and R227X, also N215S belongs to this group (Dobrovolny et al., ASHG Abstract, 2008). --- R112H --- --- A143T --- --- N215S ---

concluded that Gb3 is not an ideal biomarker using the example of N215S. --- N215S ---

Furthermore, he had mild congestive heart failure, a reduced left ventricular ejection fraction, and hypercholesterolemia. Thus, it is obvious that in Fabry patients with the N215S mutation disease progression can be mono- to oligosymptomatic, but show a tendency for the cardiac and renal phenotype rather than classical manifestation. --- N215S ---


3 R112H

Besides for instance R112H, A143T and R227X, also N215S belongs to this group (Dobrovolny et al., ASHG Abstract, 2008). --- R112H ---



HPO Nodes


HPO:
Angiokeratoma corporis diffusum
Genes 3
GLB1 NAGA AGA
Cardiomyopathy
Genes 431
TPM1 TPM2 TPM3 CDKN1C TACO1 HFE H19-ICR SDHAF1 TREX1 ERBB3 ERCC2 EYA4 ERCC3 BRIP1 ERCC4 ACADL HLA-B ACADS PDGFRA ACADVL MICOS13 PDHA1 DNAJC19 ENPP1 SPEG SMC1A ACTA1 MC2R PEX1 ACTC1 PEX6 PEX7 DPM3 PEX10 PEX12 PEX13 PEX14 ANO5 HMGCL KLHL41 ACTN2 CHKB ADAR TTN HNRNPA1 TTPA TTR TRIP4 HNRNPA2B1 ADCY5 WARS2 ELAC2 PGM1 RYR1 RYR2 RNU4ATAC FANCA FANCC FANCD2 FANCE SLC25A3 SLC2A10 FAH FANCB FANCF FANCG PHYH AARS2 FKTN CLN3 AGL RAB3GAP2 RNASEH2C HPS1 SCN5A MIPEP MIB1 COA5 AHCY GPC4 PEX16 HRAS SCO1 GTF2H5 PKP2 MMP1 MAD2L2 MTO1 FTO PRKAG2 FHL1 FHL2 POMK GMPPB PLN LTBP4 SLC30A10 D2HGDH SDHA SDHB VCL VCP SDHD PMM2 HJV POMT2 TMEM126A NDUFB11 COL7A1 FLNC FOXRED1 MYOT NDUFAF5 ANK1 NEBL TAPT1 SLC25A4 CLIP2 CISD2 RNASEH2A FKRP SGCA WFS1 SGCB SGCD ACAD9 SGSH FOS RRM2B POLG GNPTAB PEX3 NDUFAF3 BAG3 AGPAT2 COX6B1 DOLK SLC19A2 KCNAB2 COX7B COX8A COX10 POMGNT1 COX15 TWNK XK SAMHD1 FASTKD2 TMEM43 GATA5 POMT1 IDH2 TXNRD2 FXN PPARG XRCC2 CPT1A XRCC4 CPT2 FANCM GTF2IRD1 IDUA SKI TCAP SLC40A1 COA8 ABCC6 RBM20 PEX26 RBCK1 NDUFA11 SLC4A1 EPG5 PPP1CB MTFMT LIMS2 CRYAB NBAS LIPT1 VAC14 PIGT NDUFAF4 IGF2 ACAD8 ARSB ATP6 COX1 COX2 UBE2T COX3 KLF1 NEK8 FLAD1 ANKRD1 ND1 ND2 SLC22A5 ND3 ND4 NAXD MRPS14 PPA2 ND5 ND6 ANKRD11 MPLKIP GATAD1 AGK KBTBD13 TRNE TRNF NDUFAF6 CAVIN1 TRNH TRNK TRNL1 HAMP RERE TRNN TRNQ TRNS1 TRNS2 RNASEH1 TRNT TRNV TRNW SUFU MAP2K1 MAP2K2 PRDM16 NEXN SLX4 MMUT H19 MGME1 ATPAF2 SOS1 MYBPC3 ATP5F1D ATP5F1E GABRD COX20 UBR1 IL12B ATP6V1A MYH6 MYH7 ANKS6 NDUFS7 MYL2 MYL3 DCAF8 PSEN1 PSEN2 PET100 SPTA1 SPTB TMEM126B MRPL44 RNF113A VPS33A NAGA NAGLU MAP3K20 GATA4 MYOZ2 BBS2 GBE1 CDH23 NDUFA2 NDUFA4 PEX11B GPR101 ITGA7 NEB NDUFA9 NDUFA10 COQ2 BCS1L NDUFB8 NDUFS1 NDUFS2 MRPS22 NDUFS3 STAR NDUFV1 NDUFS4 ITPA NDUFS8 NDUFV2 FBXL4 IFIH1 DES GJA5 JUP COA6 PTPN11 NEU1 NF1 GLA GPC3 NDUFA12 BRCA1 GLB1 ALMS1 BRAF BRCA2 CLPB FIG4 KCNH1 SURF1 KCNJ8 MYPN TMEM70 SYNE2 VPS13A PEX19 C1QBP PEX2 PEX5 KCNQ1 DLD DMD SARDH MYO18B RMND1 GTPBP3 KCNQ1OT1 GNS ALG1 TAZ RAD51 RAD51C RNASEH2B KRAS RAF1 LIAS SCO2 NPPA PNPLA2 SLC25A20 NRAS DSC2 MLX NUP107 GNE DSG2 NDUFAF2 DSP COG7 DTNA SYNE1 TAF1A HGSNAT SLC19A3 LAMA2 LAMA3 LAMA4 JPH2 BAZ1B LAMB3 ABCC9 LAMC2 LAMP2 FANCL AIP CAV1 RFC2 ECHS1 PPCS SHOC2 SELENON BOLA3 OPA1 CSRP3 PALB2 TSFM GSN RFWD3 MLYCD YARS2 TFR2 RIT1 TGFB1 TGFB3 NDUFA13 RMRP USP8 TNNI3K LIMK1 GTF2E2 LDB3 TRNT1 GTF2I ABHD5 NDUFAF1 LMNA ATAD3A TK2 COQ4 GUSB FANCI GYG1 GYS1 MRAP TMPO BSCL2 HSD17B10 ELN HADHA MRPL3 HADHB HADH EMD TANGO2 TNNC1 POLG2 TNNI3 KAT6B HBB TNNT2 PCCA PCCB NNT HCCS HACD1 TBL2 TOP3A EPB42 COX14 TPI1
Stroke
Genes 117
MPL COL3A1 COL4A1 VHL TET2 TPP2 MYD88 COL5A1 FLNA TREX1 NPPA MYH11 HTRA1 ZMPSTE24 MYLK SH2B3 CLIP2 WFS1 CALR CYP11B1 MAT2A ACAD9 SMARCAL1 ACTA2 ACTB SLC19A2 GATA4 GATA6 ACTG1 BAZ1B DPM3 NR3C1 CPS1 ACVRL1 RFC2 APP GTF2IRD1 GDF2 ADA2 CBS MECP2 TTR ZAP70 ABCC6 NR2F2 NAGS SNAP29 STIM1 TGFB2 TGFB3 JAK2 TGFBR1 SLC2A10 TGFBR2 TGFBR3 CRELD1 MFAP5 MLXIPL ANGPTL6 LIMK1 OTC CCM2 FBN1 GTF2I THPO GLA PIGA TRNC LMNA COX1 COX2 COX3 GUCY1A1 PIK3C2A CYTB MTHFR LOX GYS1 JAG1 ND1 ND4 SCN5A ND5 AGXT ASS1 DYRK1B ND6 CST3 KCNQ1 TRNF TRNH ELN TRNK TRNL1 GNAQ PRKG1 RFT1 TRNQ PRKAG2 TRNS1 TRNS2 TRNV TRNW HBB ENG TNXB TBL2 MMUT PRNP TP53 NOTCH3 SMAD3 SMAD4 SON PCNT FOXE3 PMM2