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Report for Clinical Trial NCT02627664

Developed by Shray Alag, 2020.
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:Deglutition Disorders Parkinson Disease Dysarthria
HPO:Dysarthria Dysphagia Oral-pharyngeal dysphagia Spastic dysarthria

1 Interventions

Name: observational study

Description: natural history of non dopaminergic signs
Type: Other
Group Labels: 1

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:
HP:0001260: Dysarthria
Genes 709
NDUFS7 SPG7 FUS PLEKHG4 SPEG CTC1 SPG11 KCNA1 FA2H PLA2G6 SLC18A2 FAM126A DNAJC6 DMXL2 ENTPD1 WWOX XK TDP1 ALS2 HEXB REPS1 ATP1A3 MAPT PDGFB CCDC141 SLC2A1 MAP2K2 SPTBN2 SPG11 TWNK RRM2B GBA C12ORF65 JPH3 CACNA1A SPART CHD7 TACR3 FEZF1 XRCC4 GOSR2 TTBK2 RAB3GAP2 TRNL1 ATM ATP1A3 GFM2 TUBB3 RNU12 SOD1 NKX2-1 ADH1C FGF17 IFRD1 HESX1 CCDC141 FMR1 PRNP EEF2 PNKD SOX10 POLR3A SACS SLC2A1 SLC9A1 GLUD2 TBK1 CA8 PLP1 TOP3A RPIA CSTB WFS1 MAP2K1 TACO1 RPS20 HSD17B10 SURF1 MME POLG DYNC1I2 ALDH18A1 BEAN1 CSF1R EIF2B4 KIF1C PDE10A TTC19 SRPX2 SLC19A3 LYRM7 B4GALNT1 CACNA1A ND1 KISS1R MED13L UBB MTPAP RARS1 INPP5K PEX2 PDGFRB RANBP2 KRAS PRKCG NFASC ZFYVE26 ERCC5 COX2 CSTB ABHD12 LZTR1 FBXO7 C12ORF65 SOS1 GPAA1 SNAP25 GDAP2 SEMA4A MAPT GJC2 STUB1 PNKP VAMP1 ATP2B3 RARS1 EPM2A C9ORF72 ATXN3 RIT1 MARS2 NDUFS3 C19ORF12 SERPINI1 PMPCA PROK2 CP CAMTA1 TTN TBC1D23 PRNP SIL1 FGFR3 CACNA1G SPART ATP6 NKX2-1 TRNQ SLC30A10 GJB1 RAF1 CPLX1 KCNA1 C9ORF72 ATXN3 BIN1 SNCA MLH1 NEK1 VLDLR HPRT1 POLG DARS2 VAMP1 ERLIN2 ATXN3 CHMP2B TIMM8A ATN1 OPTN REEP1 NDUFS7 RTTN TK2 NUS1 TTR TRNS1 NDUFAF5 CACNA1G AMACR AAAS UROC1 KCND3 NDUFS2 ATP13A2 RUBCN GRM1 BIN1 UBQLN2 PDE8B FARS2 POLG2 NUP62 PROKR2 VPS13A KLC2 FGF8 KCNA1 KMT2B POLG KCNC3 PLP1 SLC25A4 EEF2 NUBPL SYT14 SQSTM1 HOXB1 SCO2 SLC52A2 TECPR2 GLRX5 SDHA EZH2 CACNA1A VCP ATP13A2 NKX6-2 CHCHD10 TGM6 FXN VCP GBA2 AP4E1 SPAST RFC1 SPG21 TMEM240 PRPS1 NDUFA12 NRAS ECHS1 UBTF NDUFV2 AUH MAN2B1 GRID2 ERCC3 GJA1 PSAP SLC1A3 ALDH3A2 COQ2 ATXN8 CAPN1 WIPI2 MTFMT ATXN2 SUFU JAK2 CYP7B1 ATP13A2 VPS13A SELENOI THAP1 TGFBR2 AFG3L2 PTPN11 POLR3A RNF113A HMGCL SPG7 NPC1 AP2M1 PIK3R5 GJB1 SNORD118 COX1 SQSTM1 WDR73 MAG ABCB7 SLC6A1 FXN HPCA HS6ST1 SACS FGFR1 NKX2-1 ND5 NDUFAF6 ND4 PCNA CAPN1 SDHA TREX1 AR FTL CHRNA1 XRCC1 PRKRA ATXN1 THAP1 TRIM37 LMNB1 ELN NONO DCC ATP2B3 TECPR2 MECR CHD3 FGF14 CAMTA1 PSAP ALDH18A1 COX10 COX15 MARS2 AFG3L2 STAC3 TWNK SLC19A3 REEP1 SIGMAR1 FLRT1 TARDBP ARX ATP1A2 ERCC4 PET100 PGM3 WDR81 CACNB4 EBF3 CHRNE ERCC2 NSUN2 TBC1D24 MAPT PANK2 FGF14 MMUT RAI1 SCN8A KCTD17 BEAN1 DDHD2 GCLC NOP56 PANK2 ATP13A2 RFC2 ERCC3 PRDM8 MME DRD3 NDUFV1 KRAS ZNF592 GJC2 BCS1L SYNE1 PPP1R15B ND6 NOTCH3 ZBTB11 ALDH18A1 PIEZO2 ATP7B TOR1A ATP13A2 ATM STUB1 COX15 THPO NDUFA10 RAB39B CYP27A1 NEFH DCAF17 TRNF PRDM8 SLC19A3 PFN1 SLC2A1 PRPH GAN ATL1 NDUFS1 SLC18A2 ALDH18A1 PUM1 TPP1 RYR1 ERLIN1 ATXN10 SNCAIP ATXN7 IRF2BPL COLQ HACE1 ALS2 SQSTM1 TUBB4A SLC30A10 COASY PSEN1 TK2 FUS BRAF SYT14 GPT2 WFS1 AFG3L2 KIF1C CISD2 COA7 LMNB1 LIMK1 ZFYVE26 PSAP TBL2 ENTPD1 SETX ELOVL4 NDUFA9 ATXN2 TWNK B4GALNT1 POLR3B GSS MAPT PPP2R2B PRNP FAT2 PDYN XPR1 ADPRS CHD2 PEX16 CYP7B1 PEX10 HEPACAM PRKCG MICOS13 ATXN10 SIL1 RASA2 SLC20A2 ITPR1 TRAPPC11 ARSA GSN NDUFAF2 RFX5 ATP7B AR DAB1 MPL TWNK TMEM240 RRM2B FOXRED1 CCDC88C DUSP6 ARSA GJC2 SLC35A1 SLC2A1 C19ORF12 KCNA4 GLRX5 GLE1 ADA2 TBC1D24 PDE10A SYNE1 RRAS ATXN2 PSAP WDR11 TBCE GPT2 CLIP2 ERCC8 GBA2 CACNA1A SPRY4 GFPT1 PLA2G6 PRKRA PLA2G6 PCGF2 EIF2B2 DARS2 NKX6-2 KCTD7 ADCY5 CP SPG11 ANOS1 AARS2 CCDC88C TBCE MATR3 POLR3B GNS CHRNA1 AFG3L2 ATXN8 PGM3 HTRA1 MATR3 ADCY5 GTF2E2 PANK2 RFXANK UBA5 GBA2 PRICKLE1 NR4A2 ALS2 AP4S1 BMPR1A C19ORF12 ALS2 RNASEH1 GRM1 ERCC2 CIITA NDUFS8 PMS1 RFC1 OPA3 RFXAP SLC52A2 ATXN1 COQ2 COQ2 COQ2 MSH6 TTBK2 NARS2 MTPAP NDUFA13 RRM2B TMEM106B AP4B1 NDUFA9 NDUFS4 SPR ANO10 NOP56 NSMF GTF2H5 PIK3CA PRNP SOS2 TARS1 CLN3 RRAS2 POLG ALS2 PEX10 EIF2B3 TPP1 PLP1 DEGS1 NPC2 EPCAM ATCAY PLD3 NDUFAF5 KRAS SPG7 LRP12 RNASEH1 POLG FA2H GRIN2A COASY EIF2B5 ELOVL4 ELOVL5 MPLKIP SAMD9L CWF19L1 APTX PMS2 ATP8A2 FLRT3 PUS3 EIF2B1 CLN5 TBK1 MYORG PDGFB HSD17B4 DCX PDHA1 MAPT FOXP2 SEMA3A TTPA DCTN1 TRNE DNAJB6 TGM6 GJA1 DMXL2 GTF2I TRNW COX3 PEX6 FA2H VPS13D AP4B1 SLC17A5 ATXN8OS STUB1 TREX1 NDUFA4 TRNH ARX ATP1A3 MRE11 ATXN7 GPAA1 CBL ITPR1 KLC2 NDUFA2 CTSF SLC16A2 ARSA ERLIN1 TRNS2 PABPN1 ATXN3 PNPLA8 GJB1 RNF216 SCARB2 TBC1D24 FMR1 TANGO2 AP4M1 ATCAY IL17RD TBP PACS1 FBXL3 ATXN8OS PRICKLE1 VWA3B ATXN8OS BAZ1B ELOVL1 FAN1 MRE11 ANO10 ERLIN2 NDUFS8 PRNP ELOVL5 SLC13A3 HPCA CWF19L1 VAMP1 SCARB2 SLC52A3 ALDH18A1 SPTBN2 MSH2 DDHD2 NOTCH2NLC LIPT1 WWOX VAPB RTTN KCTD7 GRHL3 KCND3 PANK2 GALT TDP1 MRAS DCAF17 ADAR CACNB4 MLH3 SPG11 PDE8B OPA3 SURF1 ALS2 MYOT VCP CACNA2D2 NDUFAF6 POLG ARSA SYNJ1 NHLRC1 CHCHD10 RUBCN RERE ITPR1 TBP ATP1A3 SMS GTF2IRD1 KCNC3 FBLN1 DCTN1 PDYN A2ML1 TARDBP
Protein Mutations 0
SNP 0
HP:0002015: Dysphagia
Genes 480
SMC1A SPG7 DKK1 FUS MYOT ATP7A PLA2G6 POLR3A IDH2 ALS2 ARHGAP29 PTS REPS1 ATP1A3 YARS2 TWNK RRM2B GBA CACNA1A SPART SCN4A CHRND GABRD SDHC SOD1 ADH1C PLAA LINGO1 SDHD PNKD SETBP1 KY MYH7 POLR3A SACS GLUD2 TBK1 GBA SLC6A9 TOP3A POLG FTL GRHL3 TRNK SLC19A3 BRAF MAP2K2 NEB GRHL2 MED17 NDUFA6 NECTIN1 SLC5A7 PRKCG ZFYVE26 C12ORF65 PIK3R5 MID1 SLC52A3 ACTA1 GDAP2 MAPT TK2 RYR1 VAMP1 RARS1 ATXN3 LRRK2 QDPR ND3 TBC1D23 DGUOK ACOX1 CACNA1G ATP6 SNCA ACTG2 ACTA1 GJB1 COL7A1 VPS35 LMX1B NDUFB8 C9ORF72 ADCY6 ATXN3 SNCA ACTA1 NEK1 HPRT1 POLG VAMP1 ERLIN2 ATXN3 CHMP2B CHRND TIMM8A NCAPG2 OPTN SLC25A22 REEP1 TK2 CACNA1G GIGYF2 UBQLN2 FARS2 POLG2 COQ4 SEMA3E NUP62 NEB GMPPA VPS13A TAF1 NF1 POLG SLC9A6 IRF6 HLA-DRB1 SLC25A4 ACTB CHRNE MFF ANKRD11 SYT14 SQSTM1 HOXB1 LAMB2 SLC52A2 SPECC1L TPM2 TRAPPC12 KLHL41 STXBP1 DLG1 CHCHD10 SPG21 ND1 ERLIN2 TGM6 FXN LMOD3 SDHB MAPT PIGA GBA2 GCH1 VARS1 KIAA0319L SPG21 CCR6 ND6 ASCC1 UBTF ND2 SLC5A7 PSAP CDH1 GBA ATXN8 LAMA2 ATXN2 CYP7B1 ASPA GBA POLR3A SLC52A2 SLC1A4 SPG7 NPC1 CTNS CARS2 RERE SNCA NDUFS2 TPM3 SQSTM1 TUBB4A COL7A1 PRPS1 PCNA PTS AGRN AR FTL CHRNA1 XRCC1 PRKRA ATXN1 SNAP25 KIT LMNB1 HGSNAT NONO UBTF SLC25A1 MECR CAV1 AFG3L2 MEGF10 ASAH1 REEP1 CCR6 TARDBP CCN2 NDUFS1 EBF3 CHRNE MSX1 KBTBD13 MAPT PANK2 HLA-DRB1 TRAPPC12 RAI1 EIF4G1 TRNV DDHD2 SLC18A3 KIT CLCN1 NOP56 PANK2 ATP13A2 KIT CHMP1A HTT PLXND1 NOTCH3 TUBB6 TANGO2 ATP7B SCN4A STUB1 COL7A1 CHAT CYP27A1 SETX NEFH TRNW PFN1 PRPH ALDH18A1 SDHC PRDM16 ATXN10 NGLY1 SNCAIP COLQ ATXN7 IRF2BPL COLQ ALS2 VAMP1 CNTNAP2 SKI MYOT NECTIN1 PSEN1 NDUFAF3 KCNAB2 TK2 CHAT CARMIL2 SYT14 POLG WFS1 ADD3 LMNB1 SCO2 IRF6 ND4 SETX COL7A1 TPM3 TWNK B4GALNT1 POLR3B FLAD1 MAPT LBR EPRS1 TAF1 PEX16 YY1 DNM1L FBXL4 RERE UBB SCN4A NEUROD2 MMP1 GNAO1 KLHL40 CHD7 RHBDF2 DAB1 SLC52A3 RRM2B CNTNAP1 KCNK9 SERPING1 EXOSC9 REV3L SURF1 MAPT SELENON TRIP4 C19ORF12 APP DGUOK ATP1A3 ATXN2 POLG QDPR CACNA1A PYROXD1 GFPT1 CAVIN1 PLA2G6 PDGFRA PRKRA DLX4 NRXN1 MYO9A MECP2 TP63 NDUFS3 MATR3 POLR3B GNS ACTA1 DYSF CHRNA1 AFG3L2 ATXN8 ARX KCNK9 MATR3 RLIM PANK2 TAF1 TUBB4A TPM2 CRYAB CAV1 NR4A2 ALS2 RNASEH1 GRM1 SCN3A ACTA1 SCN4A ATXN1 COQ2 MPZ ADNP NGLY1 DNAJC13 TTBK2 MYO9A TRNL1 RRM2B NDUFA9 NOP56 SON PRNP LIFR ATN1 POLG ALS2 TPM3 FBXO7 PLP1 NDUFAF2 NPC2 SDHB SPG7 LRP12 RNASEH1 FA2H PLEC ITGB4 IRX5 PIGN SDHA PUS3 TBK1 GEMIN4 MYORG COL7A1 MAPT ND5 MYPN SDHB DCTN1 SDHC DNAJB6 PLEC HLA-B MGME1 CDC73 MYMK GBA PLAA ATXN8OS IRF5 KLHL41 NUP62 STUB1 TYMP KMT2A OPA1 TP63 IKZF1 ATP1A3 KLHL7 ATXN7 GNAQ PUF60 DNAJB6 ATP6 NEB DMPK PABPN1 ATXN3 COL13A1 VAC14 NEB SIK1 GUCY1A1 SCARB2 MMP1 ECM1 FMR1 TANGO2 TIMM8A TBP FLCN SLC9A6 ATXN8OS KIF5A RRM2B ATXN8OS BMP4 FRG1 CDC73 IRF5 FERMT1 IDH1 ERLIN2 TPM3 KLHL41 KAT6B HPCA VAMP1 SLC52A3 PMP22 DDHD2 PDP1 VAPB MYH8 KCND3 SYT2 PANK2 ADAR SPG11 PDE8B GRIN2D MSX1 TBCD VCP SYNJ1 CHCHD10 CCN2 TBP KCNC3 KLHL40 MACF1 TARDBP
Protein Mutations 1
V158M
SNP 0