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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

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 705
RANBP2 CACNA1A ALS2 VCP GTF2H5 AMACR CSF1R SYNE1 FBXO7 RNASEH1 TPP1 KCTD17 ALS2 SLC6A1 CYP27A1 ALDH3A2 ATXN3 ATP1A3 GFM2 COX15 ATP8A2 TRIM37 FUS PMPCA CTC1 ERCC4 ELOVL5 SNORD118 TPP1 ADH1C SLC16A2 ANOS1 FGF14 FAT2 SLC9A1 TTN NEK1 CPLX1 RFX5 FUS LMNB1 BEAN1 WWOX FLRT3 ATXN8OS TBC1D24 ZBTB11 SOD1 SURF1 COQ2 IRF2BPL KCNA4 SLC19A3 CWF19L1 MPL HMGCL RFC1 TDP1 RFC1 GBA SURF1 POLG PSAP SOX10 RRAS2 BCS1L SPART FGFR3 RARS1 PDYN SLC2A1 CAMTA1 SPG7 PDE8B CACNA1A SUFU GBA2 SDHA HEXB GLRX5 WFS1 RFXAP CACNA1G NUBPL C9ORF72 RRM2B NKX2-1 NPC2 THAP1 STAC3 ERCC5 GLRX5 SPG7 SCARB2 CYP7B1 NUS1 C9ORF72 TOP3A TMEM240 CLIP2 GPAA1 TRNF PNPLA8 NDUFA9 PIK3R5 RAB3GAP2 RNF216 DEGS1 NDUFS7 SPEG CIITA COQ2 NDUFS1 ATP13A2 ATP2B3 COASY CLN3 ATP13A2 LZTR1 SLC17A5 TBL2 ATXN3 SNCAIP KCNC3 ATL1 REPS1 DCAF17 NDUFAF6 BMPR1A NSUN2 RAI1 GPT2 ADAR WDR73 THPO AP2M1 RARS1 ALDH18A1 ELOVL5 ENTPD1 HSD17B10 NDUFAF2 JPH3 DYNC1I2 CHD3 SYT14 TTR SIL1 FXN AP4E1 UROC1 TRAPPC11 VAMP1 TTC19 AUH PSEN1 PRNP SPTBN2 TGM6 GJC2 DDHD2 ND5 ALDH18A1 FGF17 COASY MYOT SPG11 GJC2 POLG NONO FXN GPT2 PEX2 PRNP SACS ATP13A2 B4GALNT1 DCTN1 PPP2R2B ATP7B GTF2I C12ORF65 CWF19L1 TWNK PRKCG MTPAP SLC52A2 KCTD7 TRNH PMS2 GNS SLC13A3 MATR3 CHMP2B MPLKIP MAPT SPR ABCB7 SLC30A10 CSTB SLC52A3 C19ORF12 TRNL1 SPG11 SDHA VWA3B STUB1 POLG AAAS CP ALDH18A1 GLE1 MMUT UBQLN2 AFG3L2 COQ2 WDR11 VPS13A B4GALNT1 KRAS CACNB4 ARSA NR4A2 TACO1 AP4M1 XRCC4 ATXN10 MSH2 PRDM8 FLRT1 DCAF17 TK2 GAN SPG11 FA2H CACNA1G POLG CACNA1A CAPN1 MECR NSMF NDUFAF5 FARS2 MAP2K2 SETX VAPB TRNS1 PANK2 CAPN1 ATP7B MME KCNC3 XPR1 KRAS GJC2 VAMP1 RPS20 GPAA1 CHD2 ATP1A3 CCDC141 PNKD AARS2 FGF14 CTSF COX15 INPP5K HPCA TBP PLP1 SYNJ1 PSAP SERPINI1 TTBK2 MATR3 POLG ATXN1 PTPN11 HSD17B4 COX1 MAPT PSAP RNU12 NKX6-2 COA7 RERE DUSP6 PCGF2 NDUFA12 PFN1 ALDH18A1 NOTCH3 SOS2 REEP1 ATXN8 KMT2B NDUFA13 PGM3 KLC2 PLP1 RRAS SIGMAR1 FTL PEX10 SLC52A2 PACS1 EZH2 TRNW GRM1 CHCHD10 COX3 MRAS TTPA GRIN2A WWOX ATP1A3 GTF2E2 MAP2K1 HESX1 TIMM8A POLR3A GJA1 NOP56 RPIA TGFBR2 TWNK COX2 SIL1 PRICKLE1 TBCE C19ORF12 MTFMT TECPR2 PANK2 TUBB3 RRM2B FMR1 RRM2B ERCC2 ERLIN2 SAMD9L TBCE ATCAY COX10 DNAJB6 HEPACAM MED13L CHRNE KAT6B MTPAP DCX ENTPD1 LMNB1 SLC2A1 EBF3 SLC30A10 DRD3 SPG21 GRID2 FOXRED1 EEF2 TREX1 MARS2 ALDH18A1 XRCC1 RIT1 EPM2A PDGFRB NEFH ATM ATXN2 TMEM106B PRICKLE1 KCNA1 NUP62 KLC2 HACE1 HOXB1 FGFR1 CACNB4 SMS ZFYVE26 PRPH WDR81 BAZ1B REEP1 NDUFA4 RTTN ERCC2 KRAS SLC2A1 RASA2 ECHS1 SLC35A1 AFG3L2 TBP PEX6 SYT14 SQSTM1 PROK2 MRE11 TARS1 OPA3 GOSR2 SOS1 ND4 NDUFS8 OPTN RFC2 PLA2G6 SPG7 PRKCG SLC2A1 UBB NDUFS3 RAF1 EIF2B2 TBC1D24 PLA2G6 KCND3 GDAP2 COQ2 TARDBP SACS GSN NDUFS4 ELOVL4 FAN1 XK TWNK TRNQ ERLIN1 CCDC88C GTF2IRD1 POLR3B CACNA2D2 PRKRA PEX16 NHLRC1 ATXN7 PANK2 SCARB2 PSAP GLUD2 NDUFS7 LYRM7 KCND3 TECPR2 FA2H ARSA ZFYVE26 RNF113A PDE10A ATXN2 ARSA ERCC3 SQSTM1 SEMA3A TOR1A RFXANK NOTCH2NLC PDGFB NKX2-1 TBC1D24 AP4B1 KCTD7 PDE8B SCN8A ITPR1 TWNK MAPT MAPT RAB39B HPRT1 PCNA SLC20A2 SRPX2 ANO10 PLP1 TARDBP KISS1R BIN1 HS6ST1 ALS2 AP4B1 MICOS13 PANK2 ARX ADCY5 PUM1 SLC18A2 NPC1 ARX GBA2 NDUFS2 TRNE ELN KIF1C PDGFB EIF2B1 ATCAY EIF2B3 JAK2 MME ATXN3 GCLC ABHD12 AP4S1 ADPRS APTX SLC25A4 VLDLR ZNF592 MYORG PIEZO2 VCP BIN1 ATP6 WFS1 SLC19A3 PRDM8 PGM3 SPRY4 FEZF1 SLC18A2 PDHA1 C19ORF12 MAPT ATXN10 TACR3 POLG PLEKHG4 ATXN8 MRE11 MLH3 ND6 MARS2 NKX6-2 DARS2 GRHL3 PRPS1 RNASEH1 DNAJC6 TUBB4A TMEM240 ATP13A2 ATP1A3 COLQ DMXL2 POLR3A ADCY5 FMR1 PMS1 BRAF CAMTA1 EIF2B5 HPCA TK2 NDUFA2 GBA2 IFRD1 TREX1 MLH1 CCDC141 TDP1 POLG2 ATXN8OS TGM6 LRP12 AR SPART EIF2B4 VCP SNAP25 SLC19A3 ANO10 AFG3L2 KCNA1 CYP7B1 PRNP PRNP PPP1R15B MSH6 KIF1C ATP1A2 RTTN A2ML1 PEX10 CHD7 PLA2G6 ERLIN1 ALS2 NDUFAF6 ATXN3 DCTN1 ARSA GRM1 BRAF SLC1A3 GJA1 ATP13A2 UBA5 CSTB AFG3L2 TRNS2 SYNE1 STUB1 RYR1 GSS DCC NDUFA10 SPAST SPG11 NDUFV2 CISD2 PIK3CA DAB1 CHCHD10 ATXN1 POLR3B PDYN GJB1 CACNA1A NDUFAF5 ERCC3 LIMK1 NARS2 NDUFV1 ATXN7 BEAN1 GALT CA8 ELOVL1 PABPN1 LIPT1 ADA2 STUB1 THAP1 ATM TBK1 EEF2 PLD3 PROKR2 KCNA1 VPS13A ITPR1 ND1 ATXN8OS RUBCN PDE10A ATXN2 PRKRA PNKP FGF8 NDUFA9 RUBCN OPA3 FAM126A ALS2 TANGO2 FBXL3 EPCAM NKX2-1 AR PRNP VAMP1 SEMA4A NFASC SCO2 ERLIN2 SQSTM1 NOP56 IL17RD DARS2 FA2H FOXP2 PET100 WIPI2 ATP2B3 CLN5 NRAS ALS2 CCDC88C GJB1 CHRNA1 GFPT1 DDHD2 MAN2B1 TBC1D23 ERCC8 VPS13D TTBK2 CP HTRA1 TBK1 GJB1 CHRNA1 MAG SPTBN2 ITPR1 ATN1 SELENOI NDUFS8 ELOVL4 SNCA
Dysphagia
Genes 470
TIMM8A SIK1 CACNA1A ND5 PLAA GMPPA RNASEH1 ALS2 CYP27A1 ATXN3 DNAJC13 OPA1 QDPR MYPN CHRNE KLHL40 ADH1C TYMP MSX1 NEK1 MPZ TAF1 FUS LMNB1 PLEC KIT SCN3A ATXN8OS SLC52A3 SOD1 SNCA COLQ IRF2BPL PIGA MYO9A SCN4A SLC18A3 LAMA2 GBA NGLY1 POLG TBCD COL7A1 SPG7 ND2 DKK1 CRYAB CACNA1G C9ORF72 RRM2B NPC2 SURF1 SDHB GBA SPG7 SELENON CYP7B1 LINGO1 TOP3A NRXN1 KAT6B PUF60 UBTF NDUFA9 UBB NECTIN1 COL7A1 BRAF LMOD3 NDUFS2 COQ2 MYH7 ASAH1 PLEC ATXN3 SNCAIP NEB REPS1 RAI1 ADAR RLIM RARS1 MYO9A SYT14 NDUFS1 FXN SLC25A22 ITGB4 SDHC VAMP1 PSEN1 ASCC1 ARHGAP29 DLX4 DDHD2 ALDH18A1 MMP1 LAMB2 MYH8 SLC5A7 NONO PYROXD1 SKI SACS ASPA POLG TRAPPC12 TWNK SPECC1L TPM2 IDH1 GNS MATR3 SERPING1 MAPT CHMP2B PRDM16 GNAQ APP GEMIN4 ERLIN2 SLC52A3 C19ORF12 ND4 NGLY1 CHRND STUB1 POLG CCR6 UBQLN2 MED17 GABRD B4GALNT1 NR4A2 CARMIL2 CAV1 SDHB CHD7 SEMA3E IRF5 NEUROD2 TK2 CACNA1G POLG MECR FARS2 SETX VAPB PANK2 GBA NDUFB8 CHAT TK2 ATP7B CARS2 KCNC3 NDUFA6 VAMP1 KLHL7 PNKD ACTA1 CCN2 VAMP1 ADNP HPCA TBP SYNJ1 TTBK2 MATR3 ATXN1 DLG1 KIT MAPT PSAP TPM3 SLC25A1 SLC5A7 BMP4 PFN1 NOTCH3 REEP1 ATXN8 KIT MYOT SCN4A PLP1 NDUFS3 KIAA0319L FTL SLC52A2 CHCHD10 SLC6A9 DYSF POLR3A SDHD ATP1A3 CNTNAP1 TIMM8A POLR3A NOP56 FBXO7 PDGFRA KCNK9 SCN4A SYT2 PANK2 RRM2B RRM2B PLAA PRPS1 ERLIN2 SLC9A6 SDHA EIF4G1 POLG DNAJB6 CHRNE TPM2 LMNB1 EBF3 VPS35 MAP2K2 SPG21 TUBB4A COL7A1 ATP6 CDC73 NECTIN1 TP63 SLC52A2 XRCC1 NEFH ATXN2 COL7A1 MID1 NUP62 FRG1 HOXB1 SDHC ZFYVE26 PRPH SON REEP1 TRNW ND6 TBP SYT14 SQSTM1 PMP22 TRNV OPTN PLA2G6 SPG7 PRKCG RERE NDUFAF3 DNAJB6 PLA2G6 KCND3 GDAP2 GBA HLA-B SLC52A3 IRX5 TARDBP ATN1 IDH2 AGRN TWNK PTS ACTG2 POLR3B PRKRA PEX16 ATXN7 PANK2 SCARB2 GLUD2 PTS GCH1 LRRK2 SQSTM1 MACF1 DMPK PDE8B MAPT ACTB MAPT HPRT1 PCNA CHRND IRF5 CTNS TARDBP ANKRD11 HLA-DRB1 ALS2 PANK2 COQ4 FBXL4 NPC1 FLCN CDH1 ATXN3 SNCA GRHL2 SMC1A SCN4A VARS1 ACTA1 SLC25A4 LBR MYORG GRIN2D DNM1L HLA-DRB1 ATP6 MSX1 WFS1 CCR6 KLHL41 PIK3R5 SLC19A3 ACTA1 HTT MAPT ATXN10 POLG GRHL3 ATXN8 TAF1 TPM3 ACTA1 SETX HGSNAT SETBP1 ECM1 NCAPG2 COL7A1 MFF RNASEH1 IRF6 ATP13A2 ATP1A3 COLQ POLR3A KBTBD13 ACTA1 CLCN1 EPRS1 CAVIN1 KIF5A FMR1 DGUOK ATP7A ATP1A3 TUBB4A LIFR TK2 RYR1 KY GBA2 SNAP25 ND3 POLG2 SDHC ATXN8OS TGM6 GUCY1A1 PLXND1 LRP12 SPART VCP SLC9A6 AFG3L2 ARX PDP1 NEB TAF1 PRNP SDHB NF1 MAPT EXOSC9 ALS2 DGUOK ATXN3 DCTN1 GRM1 MYOT NDUFAF2 AFG3L2 STUB1 GNAO1 MEGF10 TPM3 SPG11 CHAT RHBDF2 CAV1 VAC14 DAB1 CHCHD10 ATXN1 POLR3B CACNA1A NUP62 ATXN7 FTL TRIP4 KLHL41 TRNL1 MECP2 KLHL40 SPG21 ND1 PABPN1 KMT2A ACOX1 TBK1 PIGN IKZF1 CCN2 VPS13A CDC73 ATXN8OS NEB IRF6 SCO2 ATXN2 PRKRA TP63 MGME1 GIGYF2 ALS2 TANGO2 ADD3 AR TRNK FLAD1 COL13A1 KCNK9 CHMP1A VAMP1 ERLIN2 TPM3 REV3L NOP56 FA2H QDPR CNTNAP2 KLHL41 YARS2 CHRNA1 GFPT1 FERMT1 DDHD2 KCNAB2 NEB TBC1D23 MYMK GBA MMP1 ADCY6 TBK1 GJB1 CHRNA1 RRM2B TUBB6 SNCA
Oral-pharyngeal dysphagia
Genes 23
ASAH1 NECTIN1 FLCN CDH1 MSX1 DLG1 RAI1 ARHGAP29 DLX4 TAF1 TANGO2 NGLY1 ADCY6 GRHL3 BMP4 EXOSC9 TP63 CNTNAP1 TAF1 IRF6 ADNP CTNS UBB
Spastic dysarthria
Genes 31
AP4M1 AP4B1 AFG3L2 ALS2 SYNE1 SLC52A2 GBA2 ERLIN2 ALDH18A1 PEX6 ATP2B3 ATXN8 TDP1 ATXN8OS GBA2 GJB1 MAPT RAB3GAP2 AP4E1 SPART VAMP1 SPG7 PRNP ALS2 MARS2 AP4S1 GLRX5 POLR3A MAG ALDH18A1 ALS2