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Report for Clinical Trial NCT01888926

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Investigating the Plastic Effects of Repetitive Paired Associative Stimulation (rPAS) in Dystonia

Background: - People with dystonia have serious muscle contractions that cause abnormal movements or postures. This significantly affects their daily lives. The common type is called organic. The other type is psychogenic. People with this type have typical symptoms plus some psychological effects. Researchers will look at how rapid transcranial magnetic stimulation (rTMS) of the brain combined with stimulation of a nerve affects the ability to detect sensations. They will compare the responses of people with different types of dystonia. They will also compare the responses of people with dystonia to responses of people without it. This study may help us learn more about the nature of different types of dystonia. Objectives: - To see whether TMS combined with nerve stimulation affects the brain differently in people with different types of dystonia and those without dystonia. Eligibility: - Individuals at least 18 years old, who are right-handed and have dystonia. - Healthy volunteers at least 18 years old. Design: - Participants will have two clinical visits. Each visit will be a few hours long. They can be done on the same day. - Participants will be screened with a medical history and physical exam. - Participants will take several sensory tests. For these tests, electrodes will be placed on their skin. The participants will feel small electric shocks during some of the tests. - Participants will undergo TMS. For 2 minutes, quick electrical currents will pass through a wire coil placed on their head. As this happens, researchers will ask the participants to move certain muscles.

NCT01888926 Dystonia
MeSH: Dystonia Dystonic Disorders
HPO: Dystonia Focal dystonia Limb dystonia Paroxysmal dystonia Writer's cramp


Primary Outcomes

Measure: Change from baseline in the motor evoked potential (MEP) amplitude at S50 after 30 minutes from rPAS (T30).

Time: 30 minutes from rPAS

Time Perspective: Prospective


There is one SNP

SNPs


1 V66M

Outcome Measures Primary outcome variable: Change in MEP amplitudes at T30 from baseline Secondary outcome variables: - Input-output curve parameters (measured at baseline, T0, T30, and T60) - Temporal discrimination threshold (TDT) Exploratory Measures - Short interval intracortical inhibition (SICI), a measure of inhibition in the motor cortex - Influence of Val66Met BDNF polymorphism on the output variables Repeated measures analyses of variance (ANOVA) will be used to investigate the following three factors on the outcome variables: time (four levels: baseline, T0, T30 and T60) and muscle (two levels: APB and FDI) as within-subject factor and group (three levels: organic dystonia, psychogenic dystonia, and healthy controls) as between-subjects factor. --- Val66Met ---



HPO Nodes


HPO:
Dystonia
Genes 598
TIMM8A PLEKHG2 CACNA1A COL12A1 ND5 PLAA STXBP1 TSEN34 FBXO7 WDR45 COX3 KCTD17 CHMP2B ALS2 ATXN3 ATP6 ATP1A3 GFM2 COX15 DNAJC13 QDPR TOR1A CTC1 SNORD118 ADH1C TREX1 BSCL2 COL6A1 TAF1 ND2 NDUFAF4 TBC1D24 PNKP SURF1 SNCA IRF2BPL RHOBTB2 SCN4A GABBR2 SLC19A3 GRIN1 KCNA1 GBA TRIT1 NGLY1 SURF1 PSAP CACNA1G MTO1 DNAJC6 HTRA2 TBCD BCS1L DRD2 PODXL WDR73 GNAO1 MAN1B1 HTT PGAP1 COL6A3 TREX1 TUSC3 SLC2A1 CDKL5 CACNA1A ND2 SDHA YY1 MECP2 GCDH NKX2-1 DDC SYNJ1 NPC2 SURF1 THAP1 IFIH1 C9ORF72 CYB5A ANO3 DHX30 PRRT2 ALDH6A1 GBA SDHD RNASEH2C PRSS12 TRNF UBTF PRRT2 PNPLA8 NDUFA9 PNKD GNAO1 DEGS1 NDUFS7 SERAC1 TBC1D24 UCHL1 LIPT2 COL12A1 NDUFS2 COQ2 TNIK NDUFS1 ATP13A2 COASY IFIH1 NSUN2 ATP13A2 COL6A1 EMC1 ATXN3 SNCAIP RAB11B BSCL2 DCAF17 ND5 LINS1 NDUFAF6 ADAR RARS1 KDM5B ND4L B3GALNT2 FRRS1L NDUFAF2 JPH3 SURF1 CIZ1 AGTPBP1 PODXL HACE1 NDUFS1 FXN DNAJC6 AP4E1 TRAPPC11 TSFM SLC39A14 VAMP1 TTC19 AUH PSEN1 MED23 ZC3H14 TSEN2 ARV1 TGM6 ND5 EDC3 SLC6A3 ECHS1 COASY GNAL FLI1 FMN2 PRRT2 ATP13A2 B4GALNT1 MICU1 DCPS METTL23 HPRT1 PPP2R2B PDHX TRAPPC12 CWF19L1 UQCRQ SLC25A22 FGFR3 SNCA PCDH12 TRNH MAPT SPR CASR DHDDS KCNA1 CHN1 RSRC1 SLC30A10 EZR C19ORF12 TRNL1 SCP2 ND4 SDHA MICU1 NAA10 MAT1A CP CC2D1A GLE1 MMUT UBQLN2 AFG3L2 COQ2 PRKN VPS13A B4GALNT1 SLC2A1 ARSA NR4A2 TACO1 AP4M1 WASHC4 TBC1D24 DCAF17 UFM1 FA2H GNAS ND1 PINK1 COQ9 CACNA1A SLC2A1 MECR NDUFAF5 FARS2 SETX TRNS1 PANK2 GBA NDUFB8 ATP7B KCNC3 GJC2 AARS1 PRRT2 SUOX CYB5R3 ATP1A3 PNKD SDHAF1 AARS2 NHLRC2 COX15 HPCA TBP SYNJ1 PSAP TTBK2 VPS37A HSPG2 COX1 GLB1 MAPT NKX6-2 ACTA1 C12ORF4 CNTNAP1 STX16 PCGF2 NDUFA12 ATXN8 KMT2B NDUFA13 SGCE COL6A1 PSAP PLP1 NDUFS3 FTL TGFB2 TRNW COX3 STN1 SLC6A3 TTPA VCP GABRB2 COL6A2 CACNA1A ATP1A3 TIMM8A POLR3A RNASEH2A ACER3 FBXO7 MAFB COX2 ARX LRRK2 TRAPPC9 MTFMT GRIK2 HIBCH TPK1 PDHA1 NEK9 POLR1D STARD7 PANK2 TUBB3 CKAP2L ACSF3 SLC25A42 PNPT1 TH TRIM8 EIF4G1 COX10 FBXO31 TCOF1 SLC2A1 VPS35 SLC30A10 WARS2 DRD5 COL6A1 FOXRED1 TUBB4A ATP6 MARS2 COL6A3 ZC4H2 ALDH18A1 RNASEH2B PDGFRB SLC6A8 ND6 GRIK2 ATM TMEM106B KCNQ2 NUP62 HACE1 MPV17 NDUFA4 SLC2A1 TRNW ECHS1 AFG3L2 ND6 GM2A TBP MED25 MRE11 IREB2 COL6A3 TRNV ND4 NDUFS8 PLA2G6 CKAP2L UBA5 PRKCG SLC2A1 COL6A3 NDUFAF3 NDUFS3 HIBCH PLA2G6 GDAP2 FOXG1 NDUFS4 PIGQ PTS TRNQ SIK1 NADK2 PINK1 PRKRA SLC39A8 VPS13C PANK2 CRBN PSAP NDST1 GLUD2 NDUFS7 PTS GCH1 LRRK2 MECP2 MYF5 FA2H ARSA ATXN2 ARSA DLAT FGFR2 NAXD TOR1A AIMP1 PDGFB AP4B1 COL6A2 TBC1D24 SCN2A MAPT ACTB MAPT HPRT1 PIGP SLC20A2 PCCB NADK2 CACNA1E WDR45 AP4B1 ATP1A2 COL6A3 NEUROD2 PIGC PANK2 HNMT FBXL4 ARX ADCY5 SLC18A2 NPC1 RNASEH2A ARX GCH1 ANO3 NDUFS2 VPS37A KIF1C SGCE ZNF142 SLC39A14 ATXN3 SNCA JPH3 SYT1 AP4S1 TWIST1 COL25A1 PARK7 CYTB APTX MYORG ATP6 PIK3R5 SLC19A3 ADAR HTT SLC18A2 PDHA1 C19ORF12 MAPT SLC45A1 MRE11 TAF1 UPB1 ND6 SETX HTRA2 MARS2 NKX6-2 CRADD ECM1 GRIN2B GNAL DNAJC6 TUBB4A ATP13A2 ATP1A3 AP3D1 DMXL2 POLR3A EPRS1 ADCY5 EARS2 ATP1A3 TUBB4A COL6A2 COL6A2 HPCA DLD MMADHC KAT6A CACNA1B NDUFA2 PRKN GNA11 SLC30A9 ACTB COL4A1 CLIP1 ND3 TAF1 ATXN8OS TGM6 VPS13C CASK OFD1 SLC19A3 SLC9A6 MRPS34 AFG3L2 ARX GM2A TAF1 MAPT CYP27A1 PLA2G6 NDUFAF6 ATXN3 ARSA PRRT2 CHRNA2 ND4 AFG3L2 TRNS2 TXN2 GNAO1 PARK7 ADAR POLR1C NDUFA10 NDUFV2 VAC14 ATXN1 POLR3B LIPT1 NDUFAF5 CARS2 DNAJC12 GAMT NUP62 NDUFV1 MDH2 RNASEH2B CDK10 FTL ST3GAL3 CYP2U1 SPR TRNL1 KCTD17 MCOLN1 MBOAT7 GRIN1 ND1 LIPT1 ACOX1 THAP1 WARS2 VPS13A DNAJC19 ND1 ATXN8OS SCO2 SUCLA2 ATXN2 PRKRA COQ8A PNKP ADAR COL6A3 NDUFA9 KCNQ2 TRPV4 RNASEH2C GIGYF2 TECR TANGO2 HINT1 SDHA GNAS NKX2-1 PNPT1 GNAS TRNK SLC6A8 NDUFA12 VAMP1 RNASET2 BCAP31 PNKP GCH1 TPI1 SQSTM1 FA2H PET100 SARS1 COLEC11 AUH PCCA TBP GRIN2B TH SYNGAP1 VPS13D LMAN2L PMPCB CP MMUT ATN1 GCDH SAMHD1 NDUFS8 GTPBP2 SNCA
Focal dystonia
Genes 121
TIMM8A TUBB4A CACNA1A COL6A2 COL6A2 HPCA COL12A1 GNA11 KCTD17 FGFR3 TOR1A TGM6 MAPT CASR COL6A3 KCNA1 CHN1 PLA2G6 PRKCG COL6A3 COL6A1 SCP2 TAF1 NAA10 GDAP2 CP TBC1D24 SCN4A PRRT2 PRKRA PANK2 NGLY1 TBC1D24 PARK7 POLR1C MYF5 GNAS CACNA1A DRD2 VAC14 MECR PANK2 COL6A3 FGFR2 KCNC3 TOR1A AARS1 COL6A2 CDK10 MAPT MAPT PNKD KCTD17 HPCA THAP1 HSPG2 ANO3 THAP1 MAPT ACTA1 COL6A3 STX16 PCGF2 ARX PRRT2 PNKD KMT2B SGCE COL6A1 GCH1 ANO3 KIF1C SGCE PRKRA ZNF142 FTL COL6A3 TGFB2 COL12A1 SLC39A14 TRPV4 COL6A2 CACNA1A HINT1 ATP1A3 GNAS GNAS TWIST1 COL25A1 COASY COL6A1 MAFB GCH1 NEK9 POLR1D STARD7 SLC19A3 TUBB3 C19ORF12 COLEC11 CIZ1 TH SLC39A14 TBP TCOF1 GNAL SYNGAP1 DRD5 COL6A1 TGM6 TUBB4A ATP13A2 ATP1A3 COASY GNAL CP COL6A3 FLI1 ALDH18A1 ATN1 ATP13A2
Limb dystonia
Genes 32
CYB5A ANO3 THAP1 HPCA PRKRA VPS13C CKAP2L AFG3L2 PARK7 COL4A1 ARX TH SLC18A2 ARX VPS37A PANK2 PRKRA TH GNAL SLC6A3 BSCL2 TUBB4A ATP1A3 MAPT TAF1 GNAL PNPT1 CYB5R3 COL6A3 DDC THAP1 GCH1
Paroxysmal dystonia
Genes 8
TBC1D24 FARS2 DLAT SLC2A1 PRRT2 PNKD TBC1D24 PRRT2
Writer's cramp
Genes 20
CASR KCNA1 SGCE FTL COL6A3 TBP THAP1 PRRT2 TOR1A GNA11 TBC1D24 HINT1 COL6A3 TOR1A TBC1D24 KCTD17 CIZ1 SGCE DRD2 GCH1