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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation A143T

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 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 Internationa,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
Conditions
  1. Cerebrovascular Accid
  2. Cerebrovascular Accident
  3. Stroke, Acute
  4. Cerebral Stroke
MeSH:Stroke Fabry Disease Cardiomyopathies
HPO:Angiokeratoma corporis diffusum Cardiomyopathy Stroke

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

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

2 German Observational Multicenter Study of Patients With Fabry Disease Under Chaperone Therapy With Migalastat-HCl.

The objective of the study is to document long term data on treatment with Migalastat under "real world" conditions. The selection of patients is based on the SmPC/Fachinformation. The study duration/patient will be 2 years.

NCT03135197
Conditions
  1. Fabry Disease
MeSH:Fabry Disease
HPO:Angiokeratoma corporis diffusum

Exclusion Criteria: - Patient has a non-amenable GLA mutation or the mutation A143T or D313Y (for verification of amenable mutations please refer to: www.GalafoldAmenablityTable.com or to the "Fachinformation"). --- A143T ---

Primary Outcomes

Description: Primary endpoint of the observational study is the change in left ventricular mass index (LVMI) over two years.

Measure: LVMI

Time: two years

Secondary Outcomes

Description: Change in GFR over 24 months

Measure: GFR

Time: 24 months

Description: Incidence of transient/manifest cerebral ischemia or stroke over 24 months.

Measure: Cerebral ischemia or stroke.

Time: 24 months

Description: Change in severity of neuropathic pain measured by Graded Chronic Pain Scale (GCPS)

Measure: Neuropathic Pain (GCPS)

Time: 24 months

Description: Change in severity of neuropathic pain measured by Neuropathic Pain Symptom Inventory (NPSI) Score (items are quantified on a (0-10) numerical scale).

Measure: Neuropathic Pain (NPSI)

Time: 24 months

Description: Change in disease severity measured by Mainz Severity Score Index (MSSI)

Measure: Fabry Disease Severity (MSSI)

Time: 24 months

Description: Change in disease severity measured by the Disease Severity Scoring System (DS3)

Measure: Fabry Disease Severity (DS3)

Time: 24 months

Description: Change in Lyso-Gb3

Measure: Lyso-Gb3

Time: 24 months

Description: Change of White Matter Lesion load (quantified by WML volumetry [ml]).

Measure: White Matter Lesion load

Time: 24 months

Description: Stabilization of cerebral microbleeds/hemorrhagic lesions.

Measure: Cerebral microbleeds/hemorrhagic lesions.

Time: 24 months

Description: Change in gastrointestinal symptoms (gastrointestinal symptoms rating scale, GSRS).

Measure: Gastrointestinal symptoms

Time: 24 months

Description: Change in quality of life (Short Form (SF-36) Health Survey: 36-item, patient-reported survey of patient health).

Measure: Quality of life (SF-36)

Time: 24 months


HPO Nodes


HP:0001638: Cardiomyopathy
Genes 744
RAB3GAP2 LMNA ND4 LAMA4 TRNT NDUFA10 TRNL1 TNNT2 MMUT PEX5 NDUFS6 PEX11B COL7A1 LDB3 RAF1 MYBPC3 PPCS LAMA4 GNPTAB MYO18B LIMK1 GSN ERCC8 POMT1 COL7A1 PPARG PDGFRA AGK NDUFA2 HBB HADHA COA5 GATA4 LAMA3 FANCI GMPPB TNNI3 MYH7 TARS1 CAV3 FOXRED1 TTR EYA4 MYL3 HJV ELAC2 TMEM43 MAP3K20 SYNE2 RIT1 TPM2 MTO1 FBXL4 TMEM43 ATP5F1D SLX4 VHL JUP POMK TNNT2 ACTA1 RYR2 GPC3 KCNH1 PSEN1 TCAP CDH23 EMD DSP ELN WARS2 KLF1 GTF2E2 TNNT2 NF1 LDB3 TRNL1 RAD51 RYR1 TRNT1 VPS33A ERCC4 POLG LMNA SLC25A4 ABCC9 ACTN2 FHL1 LMNA COX2 SLC25A20 TXNRD2 SDHA TNNI3 GTF2I CRYAB ATP6 FLNC SCN5A FHL1 GLB1 FANCL NDUFA1 NDUFA11 LMNA CAVIN1 PLN AGL NDUFAF4 ACAD8 NAGLU GUSB DLD ATP6 AIP TWNK NAGA PET100 RNU4ATAC TPM3 GTPBP3 SLC25A4 FKRP XYLT2 FHL1 EPG5 BRAF PEX2 DSG2 PLN MAP2K1 HJV BRAF TRNH NEB HADHB MRAP POMGNT1 HGSNAT VPS33A SCO1 FKRP IDUA TPM2 TTR NDUFV2 EPG5 TSFM DSP MIPEP GLA BRAF POMT1 FANCE SDHD CSRP3 GPC4 PRKAG2 ND6 TMEM70 UQCRFS1 NDUFV1 AIP CPT1A ALMS1 PYGM COA6 ACTA1 RERE ACTA1 BAG3 PRDM16 RBCK1 FANCM NF1 TWNK IDUA NDUFAF3 TNNC1 NDUFS4 COX14 ACAD8 TAF1A NBAS SLC2A10 UBR1 MYOT ABCC6 NDUFA13 LIPT1 SLC19A2 PPP1CB ATAD3A TRNS2 MYOT FTO TRNS1 PRKAG2 OPA1 NEU1 COQ2 SGCB MAP2K1 SLC25A3 SDHA CAV1 IFIH1 PLN MRPL44 ANKRD11 SURF1 MEN1 GATAD1 STAR ND3 TACO1 ND1 GNE SCN5A NEB GBE1 ATP5F1E LMNA LDB3 GNPTAB HBB MYBPC3 FANCG FXN WFS1 ND4 TMEM126B ACADS ND5 RAF1 NEXN DES NDUFAF1 MYOCD ATPAF2 PCCB MYPN KIF20A EYA4 COX6B1 RAF1 COX1 LMNA PCCA SDHA TPI1 LAMA2 MYH7 TRNV LMNA PEX14 GMPPB NPPA NDUFA6 PKP2 VCP RNASEH2C ALMS1 VAC14 TIMMDC1 NDUFA10 HFE BCS1L BAG3 TRNK SPTA1 SHOC2 NDUFS7 ACTC1 TWNK GATA5 LMNA TOP3A LMNA SELENON RAF1 MYL2 TPM1 PALB2 SURF1 TPM1 FHL2 MYH7 TPM2 PSEN2 SGCD TAZ SYNE1 WARS2 TNNI3 MIB1 MTFMT SGCD TERT GTPBP3 NDUFS3 HMGCL NDUFA11 TRIP4 MYSM1 KCNJ8 GPC3 HSD17B10 KCNQ1 TTN NDUFAF3 PEX16 RNASEH2B TRNF FKTN ANK1 NDUFB11 ACTN2 NDUFA12 NDUFA9 CPT2 TGFB3 ND2 FANCB ANKS6 BAG3 BRAF XK HADHA FLAD1 SGCB IDH2 MYH7 FKTN NDUFA4 TMEM126A BBS2 TCAP MYH6 FIG4 FHL1 NNT POMT1 ACADVL DMD NUBPL POLG SAMHD1 RBM20 ACTC1 NDUFB11 ATAD3A CDKN1C ERBB3 SDHA DSC2 MYPN MYH7 NDUFV2 NUP107 JUP GPC4 EPB42 GATAD1 SHOC2 ADCY5 MYOZ2 BOLA3 DSG2 SLC25A4 C1QBP SELENON COX15 CLPB NDUFA2 PEX7 COX7B PSEN2 SLC22A5 ND3 FKTN MC2R AGPAT2 TRNN KRAS MRPL3 TNNT2 FOS KRAS PCCA PHYH HFE ANO5 PEX7 ABCC9 USP9X HAND2 TRNK RBM20 NDUFB3 COA3 DMD NDUFAF6 USP8 PRKAG2 CHKB DPM3 PARS2 TNNI3 HLA-B BSCL2 HAMP NDUFV1 PNPLA2 SCO2 JUP NDUFS1 ATP5MD NDUFS7 IDUA RAD51C TRNL1 LIMS2 MLX DES ABCC6 CLIP2 PIGT PIGT RNASEH1 FLNC ALG1 DSP NDUFS2 AHCY FANCF RAF1 ADCY5 NRAS POLG COX7B VCL POMT2 NDUFS8 TTN TNNC1 FXN BAZ1B HNRNPA1 SLC25A20 LAMC2 SDHD NDUFS2 COX20 D2HGDH SLC25A4 ADAR MMUT KLHL41 FANCD2 PYGL HCCS JPH2 RMND1 AGK GMPPB TPM3 ACTC1 TRNQ RRM2B LIAS RFC2 ALG1 HPS1 PTPN11 SPEG PMM2 XRCC2 TMEM70 ND1 SGSH FASTKD2 DCAF8 TANGO2 TNNI3 PSEN1 MYBPC3 DOLK NDUFS3 MYH6 TRNS1 SPTB MLYCD NDUFAF2 TNNI3K MYPN HRAS MRPS22 VCL ANKRD1 CPT2 TKFC BRIP1 GYS1 MYL2 ERCC3 PTPN11 PPCS PEX19 SCO2 TTPA PDHA1 TAPT1 NEXN INSR POMT1 MYH7 MYH6 MAP2K2 ABHD5 LDB3 DES TK2 FLNC FAH NDUFS8 MAP2K1 MYPN NDUFAF4 HACD1 FOXRED1 MPLKIP AHCY ATP6V1A SUFU COX3 MGME1 BMP2 NDUFAF5 TNNI3 HADHB QRSL1 SLC4A1 NDUFB10 ND1 ECHS1 PEX13 NDUFS4 NAXD NDUFS4 ACADL COX8A NAGA ACTA1 GABRD DNAJC19 POLG2 TAZ ACAD9 BRCA1 SLC25A3 NDUFB11 KCNAB2 AIP NDUFB8 SDHA FANCC DPM3 FKTN WFS1 KRAS COA8 ND5 PEX1 PEX12 FOXRED1 HRAS SDHAF1 DES UBE2T VCL CSRP3 BRCC3 HADH ARSB ERCC6 HCCS NDUFB11 SLC30A10 FIG4 LMNA DMD COX10 MGME1 CPT2 TMPO TKFC TWNK CRYAB LMNA SKI PRDM16 NDUFS1 SOS1 NUP107 TNNT2 PEX3 MAP2K2 NDUFS2 SLC19A3 ACAD9 RNASEH2A NDUFV2 KBTBD13 ENPP1 GTF2IRD1 PPA2 DOLK LAMB3 KCNQ1OT1 NDUFAF8 CSRP3 HADHA ERCC2 NDUFS8 DTNA COG7 MRPS14 XYLT1 CAP2 AGPAT2 DSP SLC40A1 FKRP TGFB1 PTPN11 TTN HADH POMT2 SDHAF1 NDUFS2 LAMP2 VPS13A NDUFAF5 HAMP XRCC4 FANCA MYH7 PMM2 MAD2L2 ATAD3A COX15 TACO1 CLN3 PET100 TMEM126B RFWD3 POLG MYH6 DSG2 PEX26 ABCC9 TRNW PEX6 TRNW DMD HNRNPA2B1 MYPN TREX1 LTBP4 TRNK YARS2 PNPLA2 ITGA7 AARS2 BRCA2 ND6 CENPE PEX7 DMD CRYAB INSR TNNC1 TPM1 ND2 POLG IL12B MMP1 HADHA PCCB NDUFAF2 TXNRD2 LAMP2 NDUFAF1 SGCA MICOS13 PHYH NEXN NEK8 BSCL2 CISD2 RRM2B RNF113A NEBL IGF2 MEFV H19-ICR TBL2 KAT6B SMC1A NDUFB9 JUP SARDH GSN TFR2 CPT2 DMPK PEX10 DLD SYNE2 TPM3 GPR101 GATC GTF2H5 COA8 DNAJC19 DSP RMRP MYLK2 ACADVL PGM1 TTN COQ4 PRDM16 PPARG RNU4ATAC CRYAB ITPA GJA5 GNS TAZ GYG1 TRNE SDHB