SNPMiner Trials by Shray Alag


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Report for Mutation N370S

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 5 clinical trials

Clinical Trials


1 The Parkinson's Progression Markers Initiative (PPMI)

This is a observational, multi-center study to assess progression of clinical features, imaging and biologic biomarkers in Parkinson disease (PD) patients compared to healthy controls (HC) and in PD patient subtypes. The primary objective of this study is to identify clinical, imaging and biologic markers of PD progression for use in clinical trials of disease-modifying therapies.

NCT01141023 Parkinson Disease Drug: DaTscan
MeSH: Parkinson Disease

Addition of PPMI Pathology Core/PPMI Brain and Tissue Bank Addition of Gait Assessment Companion Study (Select PPMI sites - Genetic Cohort only) Testing for additional GBA mutations - previously testing involved testing only for the GBA N370S mutation; however, going forward, testing will include tests for additional GBA mutations that are identified as being associated with certain ancestry. --- N370S ---

Primary Outcomes

Description: The mean rates of change and the variability around the mean of clinical, imaging and biomic outcomes in early PD patients, and where appropriate the comparison of these rates between PD patient subsets and between various subsets (including, but not limited to: PD vs. healthy subjects, PD vs. SWEDD, PD vs. prodromal, PD with and without LRRK2, GBA or SNCA mutation, unaffected LRRK2, GBA or SNCA mutation carriers vs. healthy controls) at study intervals ranging from 3 months to 36 months. Specific examples of outcomes include MDS-UPDRS, dopamine transporter imaging striatal uptake, vesicular monoamine transporter type-2 uptake, and serum and CSF alpha-synuclein. PD patient subsets may be defined by baseline assessments, genetic mutations, progression milestones and/or rate of clinical, imaging, or biomic change.

Measure: Mean Rates of Change

Time: Baseline to 156 months

Secondary Outcomes

Description: Comparison between the rates of change in the mean of clinical, imaging and biomic outcomes in various subsets (including, but not limited to: early PD vs. healthy subjects, PD vs. SWEDD, PD vs. prodromal, PD with and without LRRK2, GBA or SNCA mutation, unaffected LRRK2, GBA or SNCA mutation vs. healthy controls)

Measure: Comparison between Rates of Change

Time: Study intervals ranging from 3 months to 156 months

Description: Including, but not limited to: early PD patients, healthy subjects, PD vs SWEDDs, PD vs prodromal, PD with and without LRRK2, GBA or SNCA mutation, unaffected LRRK2, GBA or SNCA mutation carriers vs. healthy subjects.

Measure: Prevalence of measures of clinical, imaging and biomic outcomes in various subsets (

Time: study intervals ranging from baseline to 156 months.

Description: To establish the predictive value of early clinical non-motor features, baseline imaging and biomic outcomes for future course of disease.

Measure: Predictive Value

Time: Baseline to 156 months

Description: SWEDD Clinical Diagnosis and Management Questionnaire.

Measure: To examine the proportion of SWEDD subjects that have a change in their clinical management at 24 months

Time: Baseline to 156 Months

Description: Exploratory analysis to estimate the percentage of Prodromal subjects with one or more risk characteristics [hyposmia (<10th percentile for age and gender), RBD, or LRRK2, GBA or SNCA genetic mutation, and baseline DaTSCAN binding showing minimal to moderate DAT deficit] that phenoconvert to PD within 2 years, and an exploratory analysis to examine whether the baseline DaTSCAN binding or progression of clinical, imaging, or biospecimen markers may predict those subjects likely to phenoconvert.

Measure: Exploratory Analysis

Time: Baseline to 156 months

2 Enhanced HCV Nonstructural Protein 3 (NS3) -Specific T Cell Proliferation,Interferon γ (IFNγ) and Interleukin-10 (IL-10) Secreting Clones, and Peripheral Blood Natural Killers T Cells ( NKT Cells) in Patients With Type I Gaucher Disease Infected With HCV : An Advantage in Anti Hepatitis Immunity?

Study objectives: - Investigate the anti-HCV response in patients with Gaucher disease(GD) - Define the potential role of high levels of Glucocerebroside in the immune system Study hypothesis: High levels of Glucocerebroside can be used as a tool in the antiviral treatment of hepatitis C by potentiating the immune response of natural killer T cells and dendritic cells

NCT01274208 Gaucher Disease Hepatitis C
MeSH: Hepatitis A Hepatitis C Hepatitis Gaucher Disease
HPO: Hepatitis

Of these mutations, N370S (or 1226G) occurs in 1 out of 17 Ashkenazi individuals, leading to a disease frequency of 1:850 in this ethnic group. --- N370S ---

Primary Outcomes

Measure: Gaucher patients' immune system provide enhanced immunity against hepatitis c virus

Time: 6 months

Secondary Outcomes

Measure: the role Glucocerebroside level have by enhanced immunity in patients with Gaucher disease

Time: 30 days

3 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: Hepatomegaly Gaucher Disease Splenomegaly
HPO: Hepatomegaly Splenomegaly

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 ---

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

4 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 ---

An exception is the mutation N370S, which so far has been found only in the visceral form (type1), but still may have a high phenotypic heterogeneity in GD Type 1 (Fairley et al., 2008). --- N370S ---

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

5 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 ---

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
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
Hepatitis
Genes 90
CD247 CTNNB1 ATP7B CASP10 PIEZO1 GUSB BLNK SHPK CYP7A1 IL17RA IGF2R CASP8 SH2D1A SLC25A15 BTK BTK C4B CD79B VPS33B XIAP SERPINA1 PIK3R1 GLIS3 POU2AF1 CIITA FOXP3 TPP2 RFX5 CIITA RASGRP1 RFXANK SLC25A15 AXIN1 TCF4 CD3D TP53 IL12A PRKCD CD40LG BTK IGHM IL17RC ALMS1 TRAF3IP2 KRT8 FAS LRRC8A FAS IL17F XIAP SPIB C1S RFX5 RFXAP MST1 TTC7A COG8 SKIV2L VIPAS39 IGLL1 PDGFRL TNFSF15 HSD3B7 CD3E AMACR ATP7B FASLG RFXANK IL12RB1 TCF3 CD79A KRT18 IRF5 MET PIK3CA MMEL1 ITCH TBX19 IL21R AIRE RFXAP TTC7A CLEC7A GPR35 ATP7A CYP7B1 STAT1 PGM1 APC TNPO3