SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT02627664

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Prospective Study of Dysarthria, Swallowing Disorders and Respiratory in Parkinson's Disease

The investigators prospectively enrolled 64 early PD patients (less than 3 years after the first symptom) in order to prospectively assess the natural history of non-dopaminergic symptoms.

NCT02627664 Parkinson's Disease
MeSH: Parkinson Disease Deglutition Disorders Dysarthria
HPO: Dysarthria Dysphagia Oral-pharyngeal dysphagia Spastic dysarthria

1 Interventions

Name: observational study

Description: natural history of non dopaminergic signs

Type: Other

observational study


Primary Outcomes

Description: BECD (French battery of clinical evaluation of the dysarthria) is a validated scale for qualitative assessment of dysarthria severity in neurological disorders, especially PD

Measure: dysarthria severity assessed by the BECD scale

Time: 2 years

Secondary Outcomes

Description: pulmonary function tests include spirometry with standard spirometer and maximal inspiratory and expiratory flow volume curves . At least 3 reproductible F-V curves are necessary. Values of FCV, FEV, peak expiratory flow, peak inspiratory flow, forced expiratory flow, SNIP were measured 12 hours after last levodopa intake (off drug)

Measure: respiratory insufficiency detection

Time: 2 years

Description: 150 mL glass of water test video fluoroscopy of swallow in off drug condition face and profile incidences: qualitative analysis of oral, pharyngeal, aspiration if necessary blindly assessed by 2 ENT experts in PD

Measure: swallowing function

Time: 2 years

Description: SWS test rhythmic tests for differens imposed frequencies (upper lower limb and facial) kinematic analysis of gait parameters by VICON (oxford metrics)

Measure: gait axial function (freezing)

Time: 2 years

Measure: Mattis scale

Time: 2 years

Measure: LARS scale

Time: 2 years

Measure: MADRS scale

Time: 2 years

Measure: PAS scale

Time: 2 years

Measure: MoCA

Time: 2 years

Description: To evaluate of cognitive and profile correlation to the polymorphisms of COMT (catechol-O-methyltransferase: Val158Met COMT) of MAPT H1 / H2 (microtubule associated tau protein) and ApoE (Apolipoprotein-E-ε2, 3, 4 )

Measure: Genetic Polymorphisme

Time: 2 years

Time Perspective: Prospective

Other


There is one SNP

SNPs


1 V158M

To evaluate of cognitive and profile correlation to the polymorphisms of COMT (catechol-O-methyltransferase: Val158Met COMT) of MAPT H1 / H2 (microtubule associated tau protein) and ApoE (Apolipoprotein-E-ε2, 3, 4 ). --- Val158Met ---



HPO Nodes


HPO:
Dysarthria
Genes 450
VAPB NHLRC1 HEXB MAG TACO1 UBA5 TREX1 GLRX5 ERCC2 PNKP ABCB7 ERCC3 LZTR1 ERCC4 ERCC5 REPS1 MAN2B1 STUB1 PDGFB MICOS13 PDGFRB SIGMAR1 PDHA1 MAPT AMACR SPEG PDYN ELOVL5 WDR81 PEX6 PEX10 RPS20 CHD2 CHD3 HMGCL NUP62 RRAS PLD3 PFN1 EZH2 COLQ ADAR ATXN8 TTN TTPA TTR CHRNA1 ADCY5 RYR1 MYORG PGM3 TBC1D24 CHRNE SPG21 SEMA3A HPCA ERCC8 HOXB1 HEPACAM TUBB3 TUBB4A UBB FAT2 SAMD9L PANK2 SERPINI1 AARS2 CIITA ATXN1 ATXN2 PIK3CA ATXN7 ATXN8OS TPP1 CLN3 HS6ST1 CLN5 HPRT1 RAB3GAP2 A2ML1 HACE1 SCN8A ATXN3 FBXO7 PEX16 DCAF17 MLH1 GTF2H5 CYP7B1 RNF216 FGF8 PLA2G6 FGF14 FGFR1 FGFR3 ATXN10 MME FLRT3 FLRT1 HSD17B4 ALDH3A2 PLP1 SLC30A10 SDHA VCP MPL PMS1 PROK2 KCTD7 MRE11 TRAPPC11 VLDLR BIN1 PMS2 FOXRED1 UBQLN2 MYOT FMR1 NDUFAF5 NOP56 SLC25A4 CLIP2 PLEKHG4 CISD2 CTC1 WFS1 FA2H RRM2B POLG ATCAY RTTN ARX SLC35A1 KLC2 COX10 COX15 CP TWNK OPA3 ALS2 XK NPC2 SPG11 MSH2 CHD7 FXN XRCC1 XRCC4 PNKD GTF2IRD1 NUBPL GOSR2 CCDC141 GBA2 SLC1A3 AR SLC2A1 ERLIN1 CHMP2B FAN1 MTFMT PRKRA SLC6A1 TMEM106B LIPT1 PPP2R2B IFRD1 SLC9A1 MLH3 RPIA PIEZO2 POLR3B ARSA SNCAIP NSMF ATP6 COX1 COX2 COX3 WDR11 SLC16A2 ZNF592 FEZF1 FARS2 SLC18A2 PDE8B SLC20A2 RFXANK TBK1 NUS1 C12ORF65 ND1 ND4 ND5 ND6 CSTB MPLKIP TRNE TRNF PRKCG PNPLA8 FTL NDUFAF6 SMS TRNH TRNL1 ATM SELENOI SNAP25 RERE FUS COASY TRNQ ATP1A2 AP4B1 TBC1D23 GRHL3 ATP1A3 TRNS1 SNCA TRNS2 C9ORF72 TDP1 RNASEH1 PUM1 TRNW ZBTB11 SUFU MAP2K1 IL17RD MAP2K2 ABHD12 ATP2B3 RUBCN TRIM37 MMUT PRNP RAI1 SOD1 TMEM240 KIF1C SOS1 PRPS1 SOS2 LYRM7 SOX10 CTSF CHCHD10 HTRA1 NDUFS7 B4GALNT1 SETX NKX6-2 SPAST ATP7B PSAP GPAA1 KMT2B WWOX PSEN1 SPG7 REEP1 GALT AUH SPR PET100 ATP8A2 INPP5K MATR3 APTX SPTBN2 CYP27A1 RNF113A CPLX1 DAB1 SPART NFASC UROC1 NDUFA2 NDUFA4 TGM6 DCC PDE10A NDUFA9 NDUFA10 COQ2 DNAJC6 DCTN1 ADA2 NSUN2 BCS1L DCX NDUFS1 NDUFS2 GFPT1 NDUFS3 NDUFV1 HESX1 NDUFS4 FGF17 TTC19 SNORD118 NDUFS8 NDUFV2 ITPR1 SLC52A3 ELOVL4 JAK2 GJA1 TTBK2 TIMM8A BMPR1A GJB1 ANOS1 PRDM8 PTPN11 KCNA1 ADPRHL2 KISS1R KCNA4 NDUFA12 BRAF SYNJ1 PROKR2 PMPCA KCNC3 SACS TECPR2 KCND3 SQSTM1 SURF1 C19ORF12 EIF2B4 EIF2B3 AFG3L2 VAMP1 EIF2B2 EIF2B5 FAM126A VPS13A PEX2 ALDH18A1 IRF2BPL VWA3B CACNA1G TACR3 SEMA4A RAB39B DDHD2 SLC52A2 CAMTA1 GPT2 GNS NOTCH3 TBCE TBP CA8 NPC1 CACNA1A KRAS MARS2 RNU12 RAF1 SCO2 RANBP2 DMXL2 CACNB4 EPM2A NRAS RARS ATN1 RASA2 NDUFAF2 PRICKLE1 EBF3 BEAN1 SYNE1 CAPN1 DUSP6 DNAJB6 NR4A2 SLC19A3 TOR1A BAZ1B GJC2 GRID2 ANO10 RFC1 MED13L RFC2 GRM1 ECHS1 ATP13A2 THAP1 RFX5 RFXAP MTPAP NARS2 DARS2 ATL1 SIL1 KCTD17 POLR3A GSS RIT1 NDUFA13 SLC17A5 CCDC88C AP4E1 TGFBR2 TARDBP MSH6 LIMK1 GTF2E2 EEF2 AP4S1 VPS13D OPTN AAAS ERLIN2 GTF2I THPO MECR LMNB1 NKX2-1 PABPN1 TK2 EIF2B1 SCARB2 PPP1R15B ENTPD1 SPRY4 SYT14 GAN WDR73 ZFYVE26 HSD17B10 ELN AP4M1 TANGO2 POLG2 KAT6B EPCAM PIK3R5 TBL2 CWF19L1 TOP3A PCNA JPH3 XPR1
Dysphagia
Genes 308
VAPB TPM2 TPM3 GABRD PIGN EPRS MYH7 MYH8 CHCHD10 B4GALNT1 SETX IRX5 ATP7A ATP7B REPS1 PSAP PSEN1 SPG7 REEP1 STUB1 HLA-B PDGFRA MAPT MYO9A PYROXD1 SMC1A ACOX1 HLA-DRB1 MATR3 CYP27A1 ACTA1 ACTB LRRK2 KIAA0319L DAB1 SLC5A7 GBA SPART ACTG2 SIK1 CHAT IRF5 IKZF1 GCH1 KLHL41 NUP62 PLXND1 NDUFA6 TGM6 NEB NDUFA9 PFN1 COQ2 COLQ ADAR GRHL2 KCNK9 ATXN8 NDUFB8 ITGB4 MECP2 TRIP4 CHRNA1 NDUFS1 ADCY6 NDUFS2 GFPT1 NDUFS3 MFF RYR1 MYORG ADD3 CHRND CHRNE FBXL4 SPG21 SLC52A3 TUBB6 HPCA HOXB1 TTBK2 TIMM8A TUBB4A GJB1 PANK2 NEUROD2 NF1 CLCN1 PLAA PIGA BRAF SYNJ1 KCNC3 SACS ATXN1 ATXN2 KLHL7 KCND3 ATXN7 ATXN8OS PTS SQSTM1 UBTF SURF1 HPRT1 DGUOK C19ORF12 MYPN SCN3A MID1 SCN4A AFG3L2 VAMP1 VPS13A ATXN3 FBXO7 PEX16 SERPING1 MYMK ALDH18A1 KMT2A CYP7B1 PLA2G6 IRF2BPL CACNA1G CCR6 ATXN10 KIF5A GNAO1 GNAQ MMP1 CDC73 TAF1 PLEC DDHD2 SLC52A2 MED17 DMPK QDPR GMPPA KIT PLP1 SLC9A6 GNS VARS SDHA NOTCH3 SDHB SDHC VCP SDHD TBP NPC1 PMP22 CACNA1A MPZ SCO2 COL7A1 EXOSC9 DNAJC13 COL13A1 UBQLN2 MYOT FMR1 CARMIL2 RARS NOP56 RHBDF2 SLC25A4 NDUFAF2 EBF3 WFS1 PUF60 FA2H KLHL40 RRM2B POLG CNTNAP1 NDUFAF3 ARX FERMT1 ASCC1 HGSNAT DNAJB6 NR4A2 SLC19A3 KCNAB2 LAMA2 LAMB2 DNM1L TWNK ALS2 NPC2 SPG11 CHD7 SYT2 SPECC1L CAV1 IDH1 GRIN2D IDH2 LBR FXN XRCC1 REV3L APP GRM1 PNKD SKI TYMP ECM1 SELENON GBA2 ATP13A2 AR OPA1 POLR3A CHMP2B YARS2 PRKRA CRYAB SLC25A22 SLC6A9 LIFR KY TARDBP LMOD3 VAC14 OPTN POLR3B ERLIN2 SNCAIP ATP6 MECR LINGO1 DKK1 LMNB1 GUCY1A1 TRAPPC12 PABPN1 ASAH1 FARS2 SLC18A3 TK2 COQ4 PDE8B PDP1 SLC25A1 FRG1 FLAD1 SCARB2 TBK1 ND1 SETBP1 ND2 ND3 VPS35 ND4 ASPA SYT14 RLIM ND5 EIF4G1 ND6 ANKRD11 GEMIN4 KBTBD13 FLCN GIGYF2 MACF1 PRKCG ZFYVE26 FTL CCN2 CAVIN1 TRNK TRNL1 NGLY1 SNAP25 RERE CTNS FUS TANGO2 TBC1D23 ATP1A3 SNCA C9ORF72 RNASEH1 POLG2 TRNV TRNW KAT6B MAP2K2 PRDM16 AGRN PIK3R5 MEGF10 TOP3A PRNP RAI1 PCNA SOD1 HTT MGME1 SEMA3E SON CHMP1A PRPS1
Oral-pharyngeal dysphagia
Genes 10
ADCY6 EXOSC9 RAI1 FLCN NGLY1 TAF1 CTNS CNTNAP1 ASAH1 TANGO2
Spastic dysarthria
Genes 26
MAG MARS2 PEX6 SPART AP4E1 ALDH18A1 ALS2 GJB1 GLRX5 AP4S1 ERLIN2 AP4M1 SLC52A2 AP4B1 TDP1 SPG7 GBA2 ATXN8 MAPT ATXN8OS ATP2B3 PRNP RAB3GAP2 POLR3A AFG3L2 VAMP1