SNPMiner Trials (Home Page)
Report for Mutation R496H
 Developed by Shray Alag, 2020.
SNP Clinical Trial Gene 
There are 3 clinical trials
Clinical Trials
      Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis
      of Gaucher Disease from blood (plasma)
    
More frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C and
      R496H. --- N370S ---  --- L444P ---  --- R463C ---  --- R496H --- 
  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
2 Lyso-Gb1 as Long-term Prognostic Biomarker in Gaucher Disease - an International Multicenter Epidemiological Study (LYSO-PROVE) to Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease 
      This study should demonstrate the correlation and predictive value of lyso-Gb1 concentration
      with the clinical severity of naïve, initially non-ERT/SRT Gaucher disease type 1 and during
      the study ERT/SRT-newly started Gaucher type 1 patients
    
NCT02416661  Lysosomal Storage Diseases  Gaucher Disease  Sphingolipidoses MeSH: Gaucher Disease    Sphingolipidoses    Lysosomal Storage Diseases   
The more
      frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C, and R496H. --- N370S ---  --- L444P ---  --- R463C ---  --- R496H --- 
  Primary Outcomes 
 Measure: To demonstrate the correlation and predictive value of lyso-Gb1 concentration with the clinical severity of naïve, initially non-ERT/SRT Gaucher disease type 1 and during the study ERT/SRT-newly started Gaucher type 1 patients
 Time: 48 month
  Secondary Outcomes 
 Measure: To correlate lyso-Gb1 concentration with the clinical improvement of ERT or SRT treated Gaucher type 1 and the clinical course of non-treated patients based on GD-DS3,Quality of life measured with the SF-36
 Time: 48 month
3 A Multicenter, Safety and Efficacy Study of Taliglucerase Alfa in Subjects With Type 3 Gaucher Disease 
      This is a multicenter study to assess the safety and efficacy of taliglucerase alfa (60
      units/kg) in previously untreated subjects of any age with Type 3 GD. Subjects will receive
      an infusion of taliglucerase alfa every 2 weeks for 12 months. Subjects who tolerate the
      infusions well, and who are treated in centers where home therapy is the SOC will be allowed
      to switch from site to home treatment at the discretion of the PI but after no less than 3
      uneventful infusions at the site.
    
NCT04002830  Gaucher Disease, Type 3  Drug: Elelyso MeSH: Gaucher Disease   
At least one allele of:
               -  N370S (N409S in recent nomenclature)
               -  R496H (R535H in recent nomenclature)
          4. Presence of calcification in heart valves or arteries in echocardiography.
          5. Presence of untreated iron, folic acid, vitamin B12 deficiency and/or hypothyroidism. --- N370S ---  --- N409S ---  --- R496H --- 
  Primary Outcomes 
 Description: Percent change from baseline
 Measure: Percent change from baseline in spleen volume measured by MRI
 Time: from baseline to month 12
  Secondary Outcomes 
 Description: Percent change from baseline
 Measure: Percent change from baseline in liver volume measured by MRI
 Time: from baseline to month 12
 Description: Percent change from baseline
 Measure: Percent change in hemoglobin
 Time: from baseline to Months 3, 6, 9, and 12
 Description: Percent change from baseline
 Measure: Percent change in platelet count
 Time: from baseline to Months 3, 6, 9, and 12
 Description: Percent change from baseline
 Measure: Percent change in Lyso-GB1
 Time: from baseline to Months 3, 6, 9, and 12
HPO Nodes
Hepatomegaly 
Genes 671
PEX1  CLDN1  MPL  PIEZO1  TNFRSF11A  ND5  SBDS  CCDC115  FERMT3  TRIM37  AGPAT2  B2M  JAK2  CASP10  NLRP3  ATP8B1  LYZ  PEX12  BSCL2  IDUA  RMRP  SF3B1  RASGRP1  HYMAI  HYOU1  CASR  XRCC4  PRKCD  HBA2  NUBPL  PTRH2  NDUFB10  KCNN3  LMNA  HMGCL  RPGRIP1L  PEX19  SEC63  PEPD  NGLY1  UQCRB  IFT172  PMM2  MARS1  RRAS2  LRP5  KLF1  GPC1  GBA  NDUFAF5  COX6B1  HSD3B7  CPT2  TREX1  SUMF1  CPT2  PLAGL1  KRT17  NDUFV2  ND2  NRAS  MECP2  IL2RB  TRMU  NPC2  TMEM67  CYP7B1  COX8A  MMAB  NDUFA11  IFIH1  H19-ICR  PHKB  ASAH1  ALG8  SLC7A7  TRIM37  GBA  ALG9  SLCO2A1  CLCA4  GNPTAB  BMP2  LMNA  CYBA  PEX5  DHFR  STEAP3  KCNH1  SERPINA1  NDUFS2  COX14  ATPAF2  SLC22A5  NDUFS7  PRF1  ABCB4  LIG4  MPC1  SMPD1  ABCD3  PNPLA2  KCNN4  PCCB  PET100  ICOS  NPM1  CLDN1  PEX5  ITK  SEC63  SRP54  XPR1  SLC13A5  STX11  LZTR1  ASS1  PTPRC  ALMS1  KRT6A  COX20  BSCL2  SLC17A5  NPHP3  COG7  FAH  CDKN1C  PIK3C2A  CALR  ATP6V1B2  RAG2  PHKG2  ABCA1  ITCH  MST1  IDUA  IL2RG  COG6  GALNS  IGF2  CD28  IDUA  FUCA1  TRAPPC11  TSFM  SPTB  MRPS7  PEX13  SCYL1  AMACR  PEX12  GNE  PEX3  NAGA  CA2  HSD17B4  AGA  SLC25A20  KRT6B  KRAS  GPC3  SMPD1  TTC37  SPTA1  ATP7B  MET  SLC7A7  IFT122  PEX14  FAM111B  COA8  HFE  PEX2  GPD1  SLC20A2  PEX10  GNS  PEX6  FOS  HNF4A  NCF1  PDGFRA  SLC30A10  NDUFAF3  HADHA  RNU4ATAC  GBA  IL1RN  PCCA  ND4  GBA  NGLY1  HBB  SLC25A15  CAV1  ND2  CPT1A  PSAP  STX1A  EFL1  PDGFB  PIGM  RMND1  TNFRSF13B  MIF  MMUT  LIPA  NDUFS1  ANTXR1  ADAMTSL2  PEX14  SKIV2L  VPS13A  USP18  MRPL3  RFT1  PEX6  PEX10  DIS3L2  INPPL1  ND1  NDUFS4  AP3B1  NOTCH2  NLRP3  GATA2  SNX10  AKT2  SKIV2L  RTEL1  ALDH7A1  FASTKD2  ETFB  HBB  ACADVL  APOE  NDUFA6  SMPD1  ATP7B  PEX11B  PEX1  CD19  CR2  PEX10  ALDOB  MPL  AKR1D1  CYBB  NHLRC2  GPC4  MPI  DCLRE1C  PSMB8  PSMB4  CPT2  LIPE  APOC2  DDRGK1  PTPN11  SGSH  ARSB  SP110  BTNL2  AGL  HSD3B7  SAA1  NDUFS6  ASL  ASAH1  PEX16  EWSR1  SOS2  KCNQ1OT1  CD27  PSAP  RFT1  RRAS  NDUFB9  LPIN2  ALG13  MYORG  HLA-DRB1  MRAS  PEPD  AGGF1  DOLK  PIGA  TIMMDC1  TGFB1  WRAP53  DNAJC21  FAS  SCO1  APOA1  ZAP70  DCTN4  FOXRED1  PHKG2  EPB42  DKC1  OSTM1  IFT140  PRKCD  DGUOK  ATP6AP1  BTNL2  COX10  GPC3  NLRP1  TMEM126B  HBG2  ABHD5  SOX10  NLRC4  KAT6B  NDUFAF1  DYNC2LI1  ADA  SLC30A10  FASLG  CTSK  KLF1  ATP6  NDUFAF2  ALG1  DPM2  PPARG  COX4I2  SLC25A13  RMRP  FGA  ANK1  RIT1  DLD  G6PC3  ERCC6  NDUFA1  MPV17  HJV  NDUFB3  POLG  KRAS  TRNW  LACC1  RASA2  HBA1  COA8  ND6  BSCL2  HNF1A  SLC25A15  CIDEC  FASLG  LIG4  TRNV  SOS1  NEU1  PLEKHM1  ACADM  HBA1  SLC25A13  RAF1  NOP10  LIPA  ETFA  TRMU  GBA  TNFRSF1B  SUMF1  TACO1  CPT1A  HBG1  SLC37A4  NHP2  FBP1  PCK1  SLC25A20  RBCK1  TRNN  CD55  IDS  MEFV  LTBP3  GBA  RPGRIP1L  CTNNB1  POLD1  DCDC2  HLA-DRB1  ERBB3  C1QBP  PARN  PEX6  TET2  BSCL2  SLC29A3  LARS1  LCAT  ABCC2  PEX3  ABCB11  GLRX5  USB1  NAGA  FAS  SBDS  LYST  SLC39A4  AGA  FBN1  PYGL  GPR35  ABCC8  CTNS  CYBC1  PCCB  LBR  HPGD  CD96  NDUFAF4  CASP10  RAG2  ALDOB  MYD88  CCDC47  IDUA  DPM1  COG5  CLCN7  ALG2  HAMP  BTD  CC2D2A  EIF2AK3  FUCA1  NPC1  CPOX  RNASEH2A  KCNQ1  GLIS3  DNAJC21  VPS45  ABHD5  BOLA3  CAVIN1  PTEN  GBA  PEX26  HADHA  IL7R  TALDO1  NAGLU  COG4  IDUA  LBR  SLC2A1  MOGS  CYP7B1  PNPLA2  SLC22A5  ACAT1  PSMB8  TNFRSF1B  SNX10  SLC25A19  DNASE1L3  IL6  PEX26  JAM3  NDUFV1  CTLA4  CLCN7  PDGFRB  SLC37A4  WT1  PPARG  HMOX1  HGSNAT  ADA  ACADL  TMEM165  AP3D1  ACADM  XYLT1  NDUFB11  EARS2  CAVIN1  EIF2AK3  PEX3  BRAF  CC2D2A  KRT16  GBA  NAGS  TMEM67  ACADVL  GUCY2D  HMGCL  DLD  TNFSF11  CYBB  F5  GNMT  TCIRG1  APOE  GAA  CYBA  DHDDS  ATP8B1  RAG1  TTC37  JAK2  PSMB9  NCF1  WDR35  ND3  TERC  CAV1  RAG1  NDUFS7  PEX1  EFL1  UCP2  OCLN  PEX13  HBB  MCM4  CIDEC  CLCN7  CTC1  LYST  PEX5  PLPBP  A2ML1  INPP5E  PEX12  CD70  CASR  MMAA  TMEM70  TRNW  PEX2  KCNH1  CTLA4  DCLRE1C  FAS  ICOS  DCDC2  TGFB1  CTLA4  XIAP  IL7R  LIPA  VPS33A  HBG2  G6PC  IL2RG  RAG1  TRAPPC11  SLC25A1  RHBDF2  ALMS1  NCF2  LMNA  GLB1  TNFRSF13C  GALE  PEX11B  ABCB11  SLC4A1  NDUFAF1  GALT  TRNS1  TRNE  SC5D  NEK8  CFTR  TRNL1  NCF2  PEX12  NDUFS3  AKR1D1  IL2RA  ND1  HLA-DRB1  NDUFS8  ACOX1  FDX2  GPC4  MVK  DDRGK1  ATRX  HFE  CBS  DAXX  SH2D1A  TET2  MVK  H19  PEX16  ADA2  RHAG  HNF4A  XIAP  SCARB2  CHD7  LBR  PC  C15ORF41  FAH  PEX14  POLG2  PEX1  TCF4  HBA2  PIGS  TRNK  SLC25A19  ACOX1  PEX16  PEX6  PEX26  CD40LG  PEX2  PHKA2  MFN2  TINF2  RAB27A  SRP54  ETFDH  TUFM  GNPTAB  CD28  ND3  RAG2  GLB1  AGPAT2  DGUOK  HBB  MMUT  GPIHBP1  PEX19  NCF4  KCNJ11  IL2RG  NRAS  AUH  PHKA2  TCIRG1  LMNA  YARS2  PKHD1  GFM1  PCCA  MAN2B1  ERCC8  GBA  AMACR  HMGCS2  MYBPC3  GUSB  PRKCSH  TET2  GNE  CPT2  MMUT  NDUFS4  FBP1  GCDH  TERT  JAK2   hr>
Splenomegaly 
Genes 478
CLDN1  MPL  PIEZO1  TNFRSF11A  GUSB  CCDC115  FERMT3  AGPAT2  B2M  JAK2  CASP10  NLRP3  ATRX  LYZ  IDUA  SF3B1  RASGRP1  CASR  PRKCD  HBB  HBA2  KCNN3  LMNA  MPL  MPL  RPGRIP1L  TNFRSF4  PEPD  EPB41  NGLY1  IFT172  ABCA1  KLF1  GPC1  GBA  HSD3B7  TREX1  SUMF1  IFNGR1  PKLR  NRAS  IL2RB  NPC2  TMEM67  CYP7B1  IFIH1  ASAH1  HIRA  GBA  SLCO2A1  GNPTAB  BRAF  TP53  BMP2  DHCR24  LMNA  CYBA  STEAP3  KCNH1  USB1  SPTA1  CALR  PRF1  ABCB4  SMPD1  ABCD3  KCNN4  SEC23B  ICOS  NPM1  ITK  BCR  MEFV  JAK2  BPGM  IL10  STX11  SLC4A1  PTPRC  SLC17A5  COG7  IL12A-AS1  THPO  FAH  PIK3C2A  ARVCF  CALR  BACH2  ATP6V1B2  CDAN1  JAK2  PHKG2  TNFRSF13C  ABCA1  ITCH  MST1  SEC24C  IDUA  IL2RG  COG6  CCND1  CD28  RUNX1  IDUA  FUCA1  SPTB  SCYL1  JMJD1C  GNE  COMT  CA2  SPTB  KRAS  GPC3  SMPD1  TTC37  RHAG  SPTA1  ATP7B  SLC7A7  IGH  GP1BA  EPB42  GYPC  HFE  GPD1  GNS  NEU1  FOS  NCF1  PDGFRA  TPP2  RNU4ATAC  GBA  IL1RN  GBA  HBB  CAV1  PSAP  SH2B3  PIGM  TNFRSF13B  MIF  MMUT  LIPA  GP1BB  SKIV2L  VPS13A  INPPL1  AP3B1  NOTCH2  NLRP3  GATA2  SNX10  ATM  JAK2  RTEL1  NLRP12  HBB  APOE  SMPD1  SPTB  CD19  CR2  JAK2  MPL  AKR1D1  CYBB  GPC4  DCLRE1C  PSMB8  PSMB4  APOC2  DDRGK1  SGSH  ARSB  BTNL2  HSD3B7  ASAH1  CCBE1  CD27  PSAP  LPIN2  HLA-DRB1  RREB1  PEPD  DOLK  TGFB1  GPI  WRAP53  KLRC4  TET2  HLA-B  FAS  APOA1  ZAP70  ADAMTS3  PHKG2  CD81  EPB42  DKC1  OSTM1  PRKCD  DGUOK  ATP6AP1  GPC3  NLRP1  SOX10  NLRC4  TNFSF12  DYNC2LI1  ADA  PTEN  SLC30A10  FASLG  PIK3R1  CTSK  KLF1  ALG1  PIK3CA  PPARG  COX4I2  RMRP  FGA  ANK1  GATA1  G6PC3  PHYH  ERCC6  HJV  CCR1  LACC1  HBA1  MVK  MS4A1  NBEAL2  BSCL2  FASLG  LIG4  NFKB2  TBXAS1  APOE  NEU1  CALR  PLEKHM1  UROS  HBA1  NOP10  LIPA  GBA  TNFRSF1B  SUMF1  HBG1  NHP2  TBX1  THPO  IDS  MEFV  HK1  ANK1  GBA  RPGRIP1L  DCDC2  G6PD  LAT  HLA-DRB1  ERBB3  PARN  TET2  BSCL2  SLC29A3  GFI1B  LCAT  PEX7  GBA  ICOS  GATA1  TNFSF12  GLRX5  USB1  FAS  LYST  FMO3  SLC39A4  AGA  GPR35  CTNS  CYBC1  HPGD  CASP10  RAG2  MYD88  CCDC47  IDUA  DPM1  PKLR  TNFRSF13B  CLCN7  HAMP  BTD  SAMD9L  CC2D2A  MKS1  NPC1  CPOX  RNASEH2A  GLIS3  VPS45  BCL2  AKT1  CAVIN1  PTEN  NOTCH1  JAK2  GBA  TNFRSF1A  IL7R  TALDO1  HBB  NAGLU  COG4  ABL1  IDUA  SLC4A1  SLC2A1  RAG1  CYP7B1  UMPS  CASK  CALR  IL12A  PSMB8  TNFRSF1B  IL23R  SNX10  DNASE1L3  IL6  CTLA4  CLCN7  PNP  PPARG  HGSNAT  CR2  ADA  AP3D1  UFD1  CAVIN1  FAT4  CC2D2A  GBA  TMEM67  CD19  TNFSF11  CYBB  F5  TCIRG1  AKT1  GAA  CYBA  ATP8B1  RAG1  JAK2  PSMB9  NCF1  WDR35  TERC  CAV1  CARD11  OCLN  HBB  MCM4  NLRC4  PIEZO1  FOXP3  IRF8  ERAP1  CLCN7  CTC1  LYST  INPP5E  HAVCR2  ABCG8  MPL  CASR  IGH  KCNH1  CTLA4  DCLRE1C  FAS  ICOS  DCDC2  CTLA4  XIAP  IL7R  LIPA  SH2B3  BCL6  NOD2  VPS33A  HBG2  CASP8  EPB41  RAG1  CFAP410  ALMS1  NCF2  TNFRSF13C  GALE  ABCB11  SLC4A1  SH2B3  ANK1  FAS  NCF2  AKR1D1  IL2RA  TLR4  ALDOA  GPC4  STAT4  PRKCD  DDRGK1  HFE  SH2B3  SH2D1A  CCND1  TET2  MVK  ADA2  RHAG  XIAP  MPIG6B  SCARB2  CHD7  LBR  LPL  ALAS2  HLA-DRB1  C15ORF41  FAH  TCF4  HBA2  OTC  CD40LG  PEX2  UBAC2  TINF2  RAB27A  TPI1  GATA1  GNPTAB  C4A  CD28  NBEAL2  RAG2  PTEN  GLB1  AGPAT2  DGUOK  NFKB1  GPIHBP1  NCF4  UROS  PHKA2  TCIRG1  MEFV  PKHD1  MAN2B1  ERCC8  GBA  MVK  GUSB  PIK3CD  APOA1  TBX1  TET2  TERT  JAK2   hr>