SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation L444P

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 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
Conditions
  1. Splenomegaly
  2. Hepatomegaly
MeSH:Hepatomegaly Gaucher Disease Splenomegaly
HPO:Hepatomegaly Splenomegaly

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

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 Evaluation of Combination Therapy With Miglustat and Enzyme Replacement Therapy on Gaucher Disease Type IIIB

evaluate the combination therapy with Miglustat and enzyme replacement therapy (ERT) on Gaucher disease

NCT02520934
Conditions
  1. Gaucher Disease
Interventions
  1. Drug: Miglustat
  2. Drug: ERT
MeSH:Gaucher Disease

Case_Miglustat Inclusion Criteria: 1. Confirmed diagnosis of Gaucher Disease: blood test shown lack of beta- glucocerebrosidase, and found L444P homozygous on GBA gene. --- L444P ---

Control_normal Inclusion Criteria 1. Age 6-18 years 2. No significant physical, mental, or psychiatric problems Exclusion criteria 1. Children with eye disease (not include myopia, hyperopia, Astigmatism) Case_Miglustat Inclusion Criteria: 1. Confirmed diagnosis of Gaucher Disease: blood test shown lack of beta- glucocerebrosidase, and found L444P homozygous on GBA gene. --- L444P ---

Primary Outcomes

Measure: Improve in Purdue Pegboard test speed

Time: 24 months

3 The Chinese Parkinson's Disease With GBA Variants Registry

The purpose of the Chinese Parkinson's disease with GBA variants Registry (CPD-GBAR) is to develop a database of patients of Parkinson's disease with Glucocerebrosidase (GBA) gene variants in mainland China.

NCT03523065
Conditions
  1. Parkinson Disease
MeSH:Parkinson Disease

GBA gene variants such as L444P can influence the risk of developing PD and these variants have the greatest impact on PD susceptibility among all the PD related gene variants yet discovered. --- L444P ---

Primary Outcomes

Description: Establish the database of Parkinson's disease with GBA variants in mainland China.

Measure: Database of Parkinson's disease with GBA variants

Time: 10 years

Description: Characterize the clinical feature of PD patients with GBA variants

Measure: Clinical feature

Time: 10 years


HPO Nodes


HP:0002240: Hepatomegaly
Genes 698
SNX10 RNASEH2A ND4 GALE GLIS3 PSAP MMUT PEX5 NDUFS6 PEX11B NOTCH2 LPIN2 DPM2 GUCY2D ACADM GNPTAB ERCC8 HLA-DRB1 LIPA USP18 PPARG LBR PDGFRA RHBDF2 SOS2 HBB GBA ABCD3 LIG4 ALG13 ASS1 SLC30A10 HMGCS2 IL2RG SLC37A4 SLC25A19 DAXX NPHP3 NPC1 ABCC8 PIGA APOE HJV LRP5 CYBB DHFR PEX11B RINT1 ERCC8 LZTR1 TUFM GPC1 PEX13 XRCC4 GPC3 RPGRIP1L KCNH1 JAM3 INPPL1 PIEZO1 GPR35 JAK2 SLC29A3 KLF1 EIF2AK3 TRNL1 PRF1 VPS33A TNFSF11 DIS3L2 AGA CTLA4 LBR RAG1 SLC25A20 LYST EIF2AK3 BTD ABCB11 GCDH GLB1 LTBP3 ATP8B1 UQCRB CYBA LMNA ERCC6 SF3B1 NDUFA1 NDUFA11 APOE G6PC CAVIN1 RAB27A AGL CYP7B1 TCF4 NAGLU GUSB EWSR1 DLD ATP6 NAGA PET100 RNU4ATAC ERCC4 PTPN11 MOGS HNF4A CFTR TMEM67 INPP5E MYORG TMEM67 PEX2 HBA1 NRAS PLPBP ITK FBP1 MPI CALR MMAA HGSNAT SLC2A1 RASGRP1 SCO1 TKT IDUA PEX2 TTC37 TET2 IL7R ASL XIAP TSFM GFM1 DNAJC21 HBB GBA NCF1 PSMB8 MCM4 CD28 DHDDS CD70 SOS1 IL2RB PEX19 ANTXR1 GPC4 WRAP53 CD19 PIGM ACADM ND6 TMEM70 PEX1 CPT1A ALMS1 HNF4A SBDS TRNE ABCC2 ITCH PEX26 CD40LG ICOS PDGFRB RBCK1 FASLG IDUA APOC2 NDUFAF3 NDUFS4 MPV17 SAA1 MEFV COX14 HBA2 HBA2 ABCB11 CYTB PLEKHM1 ATAD3A RAG2 NEU1 HBB MRAS IDUA CASR LMNA DPM1 CAV1 NOP10 ND3 SCYL1 TACO1 ND1 MET GBA MYBPC3 HYOU1 TMEM126B POLG GBA LACC1 ACOX1 PSMB9 NDUFAF1 PEX3 ATPAF2 F5 KCNN4 PCCB FAS KIF20A SLC13A5 NDUFS7 PEX2 RFT1 COX6B1 IL7R RAF1 ETFDH GPD1 G6PC3 TCIRG1 EXTL3 LBR ETFA GNE NGLY1 SLC25A19 PCCA MST1 RRAS2 TRNV ADAMTSL2 PEX1 PEX14 TMEM165 NDUFA6 RAG1 ALMS1 PDGFB TIMMDC1 HFE CIDEC LIPA TRAPPC11 CLDN1 CD55 TET2 TTC37 CLDN1 SPTA1 ASAH1 PEX12 MPL PEPD OCLN SC5D MAGT1 DCDC2 LMNA MIF SUMF1 ABCA1 PSMB4 SKIV2L FAH STX11 TRNW AP3D1 PEX6 PEX6 TNFRSF1B CA2 LIPE RAG2 CTLA4 HMGCL EFL1 SLC25A13 AP3B1 GPC3 KCNQ1 PEX16 ERCC6 AGA PKHD1 ZAP70 ANK1 NEU1 NDUFB11 BTNL2 COG5 TRMU CPT2 ND2 CBS PEPD MARS1 OSTM1 KRAS ERCC8 ICOS SEC63 ACADVL NUBPL DCTN4 CDKN1C DKC1 TNFRSF13B ADA AUH CCDC47 DGUOK UCP2 GPC4 EPB42 ATP7B BOLA3 PEX14 PRKCD C1QBP PEX16 KRAS HPGD ATP6AP2 FERMT3 SLC22A5 HSD17B4 LYZ ND3 CASR DCLRE1C PEX1 TRMU LCAT AGPAT2 BTNL2 TRNN GNMT B2M MAN2B1 CTNNB1 DDRGK1 MRPL3 TNNT2 DNAJC21 FOS HSD3B7 COG7 CAV1 IL2RG PCCA HFE IFT122 ACAT1 AKT2 NDUFB3 COA3 CD96 TNFRSF13C MRPS7 CAVIN1 SCARB2 GBA HBG1 CHD7 PEX10 BSCL2 TCIRG1 KCNN3 COG4 NDUFV1 PNPLA2 ATP6V1B2 HMOX1 GBA IFT140 NDUFS7 IDUA CTSK KLF1 FUCA1 ALDOB PYGL RHAG PIGS FLNC JAK2 ALG1 NCF4 KCNJ11 ATRX CIDEC PEX12 GPIHBP1 NCF2 PRKCSH CD28 MFN2 LARS1 PTRH2 FUCA1 SLC25A20 NDUFS2 COX20 PEX26 MMUT ATP8B1 PYGL CR2 JAK2 VPS45 RMND1 SLC25A1 FASLG HBA1 GALNS GATA2 ETFB IL6 ABHD5 CTLA4 NCF1 STEAP3 DNASE1L3 IFT172 TET2 CLCN7 ND1 SGSH SERPINA1 HBG2 CLCA4 STX1A AGGF1 MRPS28 IL18BP PTRH2 NDUFS3 TRNS1 SPTB ARG1 NDUFAF2 CPT2 TKFC NAGS CLCN7 ASXL1 PEX19 PRKCD NHP2 AMACR ALG2 FBN1 SLC25A13 INSR NRAS NPC2 POLD1 SLC7A7 ABHD5 HNF1A HLA-DRB1 SLCO2A1 RAG2 FAH NDUFS8 XIAP NDUFAF4 CYBB NLRP3 FOXRED1 SLC22A5 DOLK SMPD1 DGUOK BMP2 TNNI3 SLC4A1 ABCB4 PHKA2 PARN CBL NDUFB10 PEX13 NDUFS4 NEU1 MYD88 PIK3C2A NPM1 ACADL COX8A NAGA HBB SLC20A2 MMAB GBA MTTP RRAS PTEN CPT1A ADA PHKG2 GAA ACOX1 TRIM37 AMACR IFIH1 COA8 ND5 PEX1 PEX12 FBP1 NCF2 SRP54 PEX16 IL2RA POLG2 IL2RG ARSB ERCC6 CYBC1 RASA2 SMPD1 FGA HSD3B7 CC2D2A SLC30A10 COX10 CPT2 TREX1 WDR35 LMNA PLAGL1 SRSF2 RIT1 NDUFS1 RUNX1 SH2D1A PEX3 GLRX5 WT1 CCDC115 DYNC2LI1 CTC1 GNE FAS CD27 HYMAI NLRP3 NDUFV2 DCLRE1C BSCL2 SBDS MPC1 PEX14 MVK MPL RIPK1 SLC25A15 APOA1 KCNQ1OT1 NDUFAF8 DCDC2 SLC25A15 HADHA COG6 TERC CBL PHKA2 SLC39A4 CPOX IL1RN AGPAT2 PSAP PEX12 SNX10 TGFB1 ADA2 GBA CC2D2A BSCL2 TRAPPC11 SOX10 ALDH7A1 PHKG2 CLCN7 SP110 SLC37A4 HBG2 VPS13A NDUFAF5 NGLY1 CYBA HAMP TNFRSF1B CTNS PMM2 NLRP1 EARS2 FAS SEC63 FDX2 TNFRSF11A CDIN1 TRIM37 PEX26 ERCC8 XPR1 PEX6 FAM111B RTEL1 TRNW PEX3 PEX5 MYPN DDRGK1 RPGRIP1L TRNK YARS2 PNPLA2 TALDO1 CYP7B1 TGFB1 SUMF1 SRP54 ERCC1 TINF2 ATP6AP1 RAG1 SMPD1 ND2 ALG8 ATP7B HADHA PCCB PC CPOX A2ML1 IDUA RMRP NDUFAF1 TET2 PEX6 PEX10 MMUT MVK TERT PTPRC SLC17A5 NEK8 BSCL2 AKR1D1 ALG9 USB1 IGF2 H19-ICR ERCC6 SLC7A7 COX4I2 NDUFB9 RFT1 AKR1D1 PHKB JAM2 ERBB3 SKIV2L KCNH1 CPT2 PEX10 LIG4 PEX5 XYLT1 DLD HMGCL NHLRC2 GLB1 COA8 ALDOB PCK1 RMRP ACADVL LIPA GALT CASP10 IDS PPARG EFL1 GNS GBA HLA-DRB1 CASP10
Protein Mutations 4
L444P N370S R463C R496H
SNP 0
HP:0001744: Splenomegaly
Genes 489
CARD11 SNX10 RNASEH2A GALE GLIS3 PSAP NOTCH2 LPIN2 CD81 GNPTAB ERCC8 HLA-DRB1 LIPA SPTB LBR PDGFRA HBB GBA ABCD3 GP1BB SEC24C TP53 CCND1 NPC1 HJV NBEAL2 CYBB RINT1 GATA1 MPIG6B GPC1 IRF8 GPC3 RPGRIP1L KCNH1 INPPL1 PIEZO1 GPR35 JAK2 SLC29A3 KLF1 PRF1 GPI JMJD1C VPS33A UFD1 TNFSF11 CTLA4 PRKCD LYST AKT1 BTD ABCB11 GLB1 ATP8B1 CYBA SF3B1 APOE TNFRSF4 RAB27A CYP7B1 TCF4 NAGLU GUSB HK1 RNU4ATAC TMEM67 INPP5E PKLR CCBE1 TMEM67 HBA1 NRAS ITK CALR CALR SPTA1 HGSNAT HBB SLC2A1 RASGRP1 LYST OTC IDUA TET2 IL7R XIAP HLA-DRB1 HBB BRAF ALAS2 GBA NCF1 PSMB8 MCM4 CD28 IL2RB GPC4 UROS WRAP53 CD19 PIGM BCR TNFRSF13C G6PD GATA1 ITCH CD40LG ICOS FASLG IDUA APOC2 ATRX FOXP3 MEFV HBA2 PTEN THPO HBA2 RAG1 PIEZO1 PLEKHM1 RAG2 NEU1 HBB IDUA CASR DPM1 NOP10 SCYL1 CALR GYPC GNPTAB GBA HBB TBXAS1 GBA LACC1 PSMB9 F5 KCNN4 FAS PEX2 IL7R ALDOA GPD1 G6PC3 MS4A1 CD19 TCIRG1 UBAC2 GUSB NGLY1 THPO MST1 NEU1 HLA-B FAT4 RAG1 ALMS1 HFE LIPA SLC4A1 TET2 IGH TTC37 LPL CLDN1 BCL2 SPTA1 ASAH1 MPL PEPD OCLN DCDC2 LMNA MIF SUMF1 CYBC1 ABCA1 PSMB4 SKIV2L LAT FAH STX11 AP3D1 SPTB BCL6 JAK2 ERAP1 TNFRSF1B CA2 CTLA4 FMO3 AP3B1 GPC3 ERCC6 AGA GATA1 PKHD1 ZAP70 ANK1 PEPD OSTM1 IL12A ERCC8 ICOS KCNN4 DKC1 SH2B3 TNFRSF13B ADA TPP2 CCDC47 DGUOK NOTCH1 GPC4 EPB42 IL23R TNFSF12 PRKCD RASGRP1 UMPS KRAS PEX7 HPGD FERMT3 SH2B3 LYZ ANK1 CASR DCLRE1C LCAT BTNL2 B2M MAN2B1 DDRGK1 KLRC4 CCND1 HSD3B7 COG7 IL12A-AS1 CAV1 HFE ABCA1 TNFRSF13C CAVIN1 NLRP12 SCARB2 GBA SLC4A1 HBG1 CALR ABCG8 CHD7 BSCL2 MVK TCIRG1 KCNN3 COG4 ATP6V1B2 GBA PKLR RREB1 CDAN1 IDUA ARVCF CTSK KLF1 NFKB1 SEC23B FUCA1 TBX1 MKS1 RHAG SAMD9L JAK2 ALG1 NCF4 TPI1 MPL GPIHBP1 NCF2 CD28 PTEN GFI1B AKT1 JAK2 MMUT CR2 JAK2 VPS45 PIK3CA FASLG HBA1 GATA2 IL6 ICOS CTLA4 NCF1 STEAP3 DNASE1L3 IFT172 TET2 CLCN7 SGSH HBG2 HAVCR2 SPTB NBEAL2 CLCN7 ASXL1 PRKCD NHP2 NPC2 SLC7A7 JAK2 HLA-DRB1 SLCO2A1 RAG2 FAH XIAP SH2B3 CYBB NLRP3 IGH DOLK IL10 SMPD1 DGUOK BMP2 NLRC4 SLC4A1 ABCB4 PARN MYD88 PIK3C2A NPM1 HBB PIK3R1 ATM MPL GBA PIK3CD CASP8 CASK PTEN ADA PHKG2 GAA IFIH1 NCF2 CR2 IL2RA IL2RG MEFV ARSB ERCC6 CYBC1 WDR1 SMPD1 RHAG FGA APOE HSD3B7 CC2D2A SLC30A10 EPB42 TREX1 WDR35 LMNA MVK APOA1 ABL1 BACH2 SRSF2 RUNX1 SH2D1A GLRX5 CCDC115 TET2 DYNC2LI1 CTC1 GNE FAS CD27 COMT NLRP3 TBX1 DCLRE1C CFAP410 MEFV MVK MPL FAS RIPK1 APOA1 ANK1 NFKB2 DCDC2 COG6 TERC CBL ADAMTS3 PHKA2 SLC39A4 CPOX IL1RN AGPAT2 PSAP SNX10 NOD2 STAT4 TGFB1 ADA2 GBA CC2D2A TNFRSF13B SOX10 PHKG2 CLCN7 VPS13A CYBA HAMP TNFRSF1B CTNS PIEZO1 NLRP1 PNP PKHD1 FAS TNFRSF11A CDIN1 DZIP1L TLR4 EPB41 RTEL1 SLC4A1 DDRGK1 RPGRIP1L IFNG EPB41 TALDO1 TNFRSF1A CYP7B1 MPL SUMF1 C4A TINF2 ATP6AP1 RAG1 SMPD1 UROS ATP7B CPOX GP1BA IDUA JAK2 DHCR24 USB1 RMRP TET2 BPGM TERT PTPRC PHYH SLC17A5 RUNX1 AKR1D1 USB1 CCR1 COX4I2 HIRA TNFSF12 AKR1D1 ERBB3 KCNH1 LIG4 SH2B3 LIPA IFNGR1 CASP10 IDS PPARG GBA GNS GBA CASP10 JAK2
SNP 0