SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT01331642

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Biomarker for Gaucher Disease an International, Multicenter, Epidemiological Protocol

Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Gaucher Disease from blood (plasma)

NCT01331642 Splenomegaly Hepatomegaly
MeSH: Gaucher Disease Splenomegaly Hepatomegaly
HPO: Hepatomegaly Splenomegaly


Primary Outcomes

Description: Next-Generation Sequencing (NGS) of the GBA gene will be performed. The mutation will be confirmed by Sanger sequencing.

Measure: Sequencing of the Gaucher disease related gene

Time: 4 weeks

Secondary Outcomes

Description: The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.

Measure: The Gaucher disease specific biomarker candidates finding

Time: 24 months

Time Perspective: Prospective

Cohort


There are 4 SNPs

SNPs


1 L444P

More frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C and R496H. --- N370S --- --- L444P ---


2 N370S

More frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C and R496H. --- N370S ---

The exception is the mutation N370S, which has so far been detected in connection with only visceral progress forms (type1). --- N370S ---


3 R463C

More frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C and R496H. --- N370S --- --- L444P --- --- R463C ---


4 R496H

More frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C and R496H. --- N370S --- --- L444P --- --- R463C --- --- R496H ---



HPO Nodes


HPO:
Hepatomegaly
Genes 440
CDKN1C TACO1 HFE H19-ICR TMEM67 USP18 TREX1 GLRX5 ABCA1 SLC29A3 LZTR1 ERCC6 MAN2B1 ACADL ACADM PDGFB PDGFRA ACADVL ACAT1 PDGFRB MARS VPS45 AMACR ACOX1 HLA-DRB1 CFTR NCF1 ETFA ETFB ETFDH PEPD SCYL1 PEX1 PEX6 TCIRG1 DNAJC21 PEX10 PEX12 PEX13 DHDDS PEX14 MCM4 EWSR1 HMGCL ATP8B1 HMGCS2 HMOX1 RRAS ADA HNF4A F5 LYST MECP2 MEFV NLRC4 TUFM RNU4ATAC ABCB4 FAH PHKA2 ERCC8 MET PHKB PHKG2 SAA1 SERPINA1 FBN1 FBP1 ICOS PIGA CLCN7 SC5D COG6 FDX2 AGA HPGD AGL UCP2 MIF A2ML1 GPC4 SNX10 PEX16 PKHD1 WDR35 FGA SCO1 CC2D2A ANTXR1 CYP7B1 ALG8 PLAGL1 AKT2 NOP10 ABCC2 HSD17B4 ALDOB EIF2AK3 SLC30A10 COG4 PMM2 MPI HJV MPL MPV17 TRAPPC11 DCDC2 CLCA4 ANK1 OSTM1 RNASEH2A CTC1 INPP5E POLD1 SGSH FOS POLG GNPTAB PEX3 AGPAT2 COX6B1 DOLK LARS WT1 COX8A COX10 XIAP SLC39A4 APOA1 NPC2 CHD7 FASTKD2 APOC2 CPOX APOE CCDC115 PPARG CPT1A XRCC4 IDS CPT2 IDUA AP3B1 FAS NHP2 SKIV2L FASLG CR2 SP110 COA8 ZAP70 SLC2A1 ALG2 PEX26 RBCK1 SLC4A1 MST1 TRMU HSD3B7 NPHP3 TNFSF11 IGF2 ARSB ATP6 GPIHBP1 G6PC3 KLF1 LACC1 DYNC2LI1 ASAH1 PRF1 SLC20A2 SLC25A1 NEK8 SLCO2A1 ASL TTC37 CIDEC ND1 ND2 SLC22A5 ND3 ND4 ND5 ASS1 ND6 LPIN2 PTRH2 ABCB11 DDRGK1 SLC13A5 MPC1 TRNE PRKCD SMPD1 CAVIN1 IFT122 CTLA4 FUCA1 PRKCSH TRNK TRNL1 NGLY1 HAMP CTNS TRNN CTNNB1 TRNS1 OCLN TRNV TRNW STX11 GFM1 IL1RN IL2RA CTSK IL2RG G6PC SLC37A4 TRIM37 IL6 MMUT GAA H19 ALDH7A1 MVK ADAMTSL2 IL7R ATPAF2 SOS1 CYBA SOS2 CYBB COX20 TET2 MYD88 SOX10 ATP6V1B2 IFT140 GALE NDUFS7 ATP6AP1 DIS3L2 ATP7B GALNS PSAP GALT ATRX AUH RTEL1 EARS2 PET100 IFT172 C15ORF41 TMEM165 PIEZO1 INPPL1 SPTA1 CYBC1 SPTB B2M VPS33A NAGA PSMB4 NAGLU AKR1D1 GATA2 PSMB8 PSMB9 CD55 GBA SRP54 GCDH DAXX NCF2 NCF4 NHLRC2 TNFRSF11A PEX11B GNMT PTEN ADA2 DPM1 PLEKHM1 NAGS NDUFS4 ITK FAM111B JAK2 IFIH1 STX1A PTPN11 NEU1 PTPRC GPC3 GLB1 ALMS1 BRAF MOGS TINF2 CCDC47 KCNH1 BTD ABCC8 DGUOK SUMF1 DHFR KCNJ11 TMEM70 VPS13A PEX19 ABCD3 C1QBP PEX2 PEX5 MFN2 KCNN4 DKC1 KCNQ1 DLD PYGL RFT1 COX4I2 RMND1 HYMAI KCNQ1OT1 TALDO1 AP3D1 GNS DNASE1L3 RAB27A ALG1 JAM3 NOTCH2 CA2 FERMT3 NPC1 GPD1 KRAS RAF1 RAG1 RAG2 KRT6A TCF4 KRT6B EFL1 HNF1A PNPLA2 SLC25A20 ITCH RPGRIP1L KRT16 NRAS KRT17 RHBDF2 RASA2 USB1 GNE CALR GPR35 COG7 PIGS HGSNAT GLIS3 AGGF1 CASP10 CASR CAV1 LBR LCAT WRAP53 SLC7A7 TERC BOLA3 TERT CBS CLDN1 RHAG NLRP3 TSFM YARS2 RIT1 TGFB1 MMAA SLC17A5 RMRP MRPS7 RASGRP1 LIG4 LIPA LIPE ABHD5 NDUFAF1 LMNA CD19 DCLRE1C CD27 CD28 GUSB SBDS BTNL2 ALG9 SCARB2 SLC25A15 GUCY2D CD40LG TNFRSF13C TNFRSF13B STEAP3 LRP5 CD70 PLPBP PARN BSCL2 HADHA MRPL3 LTBP3 DCTN4 TNFRSF1B SEC63 HBA1 HBA2 SLC25A19 KAT6B HBB PC SH2D1A LYZ MMAB HBG1 PCCA HBG2 PCCB CD96 PCK1 EPB42 COX14 XPR1 ALG13 PIGM
Splenomegaly
Genes 320
CYBB IL10 HFE TET2 TPP2 MYD88 SOX10 IL12A TMEM67 TREX1 ATP6V1B2 NLRP12 GLRX5 ABCA1 SLC29A3 GALE ABL1 ATP6AP1 ERCC6 HK1 ATP7B PSAP MAN2B1 ATRX HLA-B PDGFRA TNFSF12 RTEL1 ERAP1 VPS45 IFT172 C15ORF41 HLA-DRB1 PIEZO1 INPPL1 SPTA1 CYBC1 SPTB B2M NCF1 VPS33A PSMB4 NAGLU AKR1D1 GATA1 GATA2 PEPD PSMB8 SCYL1 PSMB9 GBA PEX7 TCIRG1 MCM4 NCF2 NCF4 CCND1 BCL2 ATP8B1 TNFRSF11A BCL6 RREB1 PTEN ADA BCR ADA2 F5 LYST DPM1 KLRC4 PLEKHM1 MEFV NLRC4 ITK MKS1 STAT4 HIRA RNU4ATAC ABCB4 TNFRSF4 NOD2 JAK2 IFIH1 GFI1B FAH ERCC8 CDAN1 PHKG2 PHYH NEU1 SAMD9L ICOS PTPRC BPGM GPC3 GLB1 ALMS1 BRAF CLCN7 TINF2 COG6 PIK3CA CCDC47 KCNH1 PIK3CD BTD AGA PIK3R1 HPGD NBEAL2 DGUOK DHCR24 NFKB1 SUMF1 NFKB2 UFD1 MIF VPS13A GPC4 SNX10 PKLR ABCD3 PKHD1 WDR35 FGA PEX2 KCNN4 DKC1 CC2D2A CYP7B1 UMPS CCR1 AKT1 C4A NOP10 ALAS2 COX4I2 UROS ALDOA TALDO1 SLC30A10 AP3D1 COG4 GNS DNASE1L3 ABCG5 RAB27A ABCG8 CFAP410 IL23R SEC23B NOTCH1 TBX1 ALG1 NOTCH2 CA2 FERMT3 GP1BA GP1BB PNP FOXP3 HJV MPL NPC1 GPD1 TBXAS1 GPI KRAS RAG1 RAG2 TCF4 FAT4 DCDC2 ITCH FMO3 RPGRIP1L NRAS ANK1 COMT OSTM1 SH2B3 USB1 ADAMTS3 GNE RNASEH2A CTC1 CALR GPR35 COG7 INPP5E SGSH FOS GNPTAB AGPAT2 DOLK HGSNAT IRF8 GLIS3 CASP8 XIAP CASP10 NLRP1 CASR SLC39A4 APOA1 NPC2 CHD7 APOC2 CAV1 LBR CPOX LCAT APOE CCDC115 PPARG RUNX1 IDS WRAP53 SLC7A7 IDUA AP3B1 MPIG6B FAS NHP2 FASLG CR2 TERC TERT JMJD1C ZAP70 SLC2A1 CLDN1 RHAG NLRP3 SLC4A1 CASK TGFB1 IFNGR1 MST1 SLC17A5 RMRP RASGRP1 LIG4 HSD3B7 OTC LIPA TNFSF11 THPO ARSB GPIHBP1 SEC24C LAT LMNA CD19 G6PC3 MS4A1 IGH ARVCF KLF1 DCLRE1C LACC1 DYNC2LI1 ASAH1 CD27 IL12A-AS1 CD28 GUSB CCBE1 PRF1 SLCO2A1 GYPC SCARB2 TLR4 CD40LG LPIN2 TNFRSF13C ABCB11 TNFRSF13B STEAP3 DDRGK1 PRKCD UBAC2 CD81 CARD11 PARN SMPD1 CAVIN1 BSCL2 CTLA4 FUCA1 ATM HAMP CTNS TNFRSF1A TNFRSF1B HBA1 OCLN HBA2 HBB STX11 SH2D1A IL1RN LYZ HBG1 IL2RA HBG2 CTSK IL2RG G6PD IL6 MMUT EPB41 GAA TP53 EPB42 MVK IL7R PIGM CYBA TPI1