SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT03206112

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Loss of Depotentiation in Focal Dystonia

Background Focal dystonia is a brain disorder. It affects a muscle or muscles in a specific part of the body. Researchers think it may be related to excessive training or practice. They want to know more about how much training might trigger focal dystonia. Objectives: To study why people develop focal dystonia. To study how brain plasticity changes with focal dystonia. Eligibility: People at least 18 years of age with focal dystonia. Healthy volunteers the same age are also needed. Design: Participants will be screened with a physical exam and questions. They may have blood and urine tests. Participants will have up to 3 testing visits. Participants will have small electrodes stuck on the skin on the hands or arms. Muscle activity will be recorded. Participants will have transcranial magnetic stimulation (TMS). A wire coil will be placed onto the scalp. A brief electrical current will pass through the coil. The current will create a magnetic field that affects brain activity. Participants may be asked to tense certain muscles or do simple actions during TMS. A nerve at the wrist will get weak electrical stimulation. The stimulation may be paired with TMS for very short times. Participants will receive repeated magnetic pulses. Participants will receive a total of 150 pulses during a 10-second period. An entire testing visit will last about 3 hours. ...

NCT03206112 Focal Dystonia Healthy Volunteers
MeSH: Dystonia Dystonic Disorders
HPO: Dystonia Focal dystonia Limb dystonia Paroxysmal dystonia Writer's cramp

1 Interventions

Name: PAS25-cTBS150

Description: PAS pairs TMS with peripheral nerve stimulation. PAS has the same risk as single-pulse TMS and is a safe procedure that has been used on thousands of participants worldwide. TBS is a special form of patterned TMS. TBS has more than minimal risk.

Type: Other

Focal Dystonia Healthy


Primary Outcomes

Measure: MEP amplitude immediately after the PAS25-cTBS150 (depotentiation) protocol

Time: Immediate

Secondary Outcomes

Measure: MEP amplitudes

Time: 30 and 60 minutes

Purpose: Basic Science

Allocation: Non-Randomized

Factorial Assignment


There is one SNP

SNPs


1 V66M

The Val66Met single nucleotide polymorphism is related to abnormal cortical plasticity. --- Val66Met ---



HPO Nodes


HPO:
Dystonia
Genes 335
GABRB2 TACO1 UBA5 MYF5 SDHAF1 EPRS TREX1 RAB11B AARS TRIT1 PNKP UPB1 HINT1 NDUFS7 B4GALNT1 SETX NKX6-2 EMC1 ATP7B PSAP KMT2B PSEN1 PDGFB ACER3 AUH EARS2 PDGFRB PDHA1 MAPT SPR DNAJC19 PET100 MAT1A VPS13C ACOX1 PARK7 NADK2 APTX CYP27A1 ACTA1 ACTB LRRK2 NAA10 GBA DHDDS GCDH GCH1 NUP62 NDUFA2 NHLRC2 NDUFA4 COL25A1 TGM6 PCDH12 MDH2 NDUFA9 NDUFA10 ZC4H2 SUCLA2 CHN1 COQ2 DNAJC6 ADAR BCS1L ATXN8 NDUFB8 TTPA NEK9 DDC MECP2 ADCY5 CHRNA2 NDUFS1 WARS2 NDUFS2 MMADHC NDUFS3 NDUFV1 NDUFS4 MYORG TTC19 STN1 SNORD118 NDUFS8 TBC1D24 NDUFV2 FBXL4 TWIST1 SYNGAP1 MICU1 IFIH1 HPCA PNPT1 TTBK2 COLEC11 TUBB3 TIMM8A TUBB4A ADRA2B KCNA1 PANK2 PLAA NDUFA12 GLB1 AARS2 SYNJ1 HIBCH KCNC3 SUOX COQ8A ATXN1 ATXN2 ATXN8OS GLE1 PTS SQSTM1 UBTF SURF1 HPRT1 C19ORF12 RHOBTB2 RNASEH2C SCN4A COQ9 HACE1 AFG3L2 VAMP1 VPS13A ATXN3 CIZ1 FBXO7 DCAF17 TSEN34 SCP2 GM2A ALDH18A1 DLAT KCNQ2 SYT1 DNAJC12 DLD PLA2G6 SGCE LIPT2 MAFB GNA11 IRF2BPL CACNA1G FGFR3 GNAL FGFR2 GNAO1 TAF1 GNAS MTO1 SLC30A9 CARS2 TXN2 QDPR ALDH6A1 PLP1 SLC30A10 AP3D1 SLC9A6 FOXG1 SDHA AGTPBP1 VCP SDHD TBP NPC1 COL4A1 RNASEH2B CACNA1A CACNA1B MARS2 MPV17 CACNA1E FLI1 MRE11 COL6A1 HSPG2 COL6A2 TRAPPC11 COL6A3 SCO2 DMXL2 FOXRED1 DRD2 DNAJC13 VPS37A COL12A1 UBQLN2 NDUFAF5 RARS ATN1 OFD1 ARV1 HTRA2 TCOF1 NDUFAF2 RNASEH2A PMPCB CTC1 PODXL FA2H CNTNAP1 KAT6A NDUFAF3 ARX POLR1C NR4A2 SLC19A3 TOR1A COX10 COX15 CP GJC2 CASR ALS2 NPC2 GRIK2 SAMHD1 GRIN1 GRIN2B PLEKHG2 FXN PRRT2 GABBR2 PNKD ECHS1 ECM1 ATP13A2 YY1 MCOLN1 THAP1 TSEN2 CDK10 UFM1 SLC2A1 PDHX TSFM KCTD17 POLR3A CHMP2B DHX30 MTFMT PRKRA TPK1 SLC6A3 NDUFA13 SLC6A8 AP4E1 TMEM106B POLR1D TH WDR45 LIPT1 PPP2R2B VAC14 AP4S1 VPS13D GTPBP2 BCAP31 NDUFAF4 POLR3B ARSA SNCAIP ATP6 MECR COX1 COX2 COX3 CYTB TRAPPC12 NKX2-1 FARS2 SLC18A2 SLC20A2 ND1 ND2 ND3 VPS35 ND4 RNASET2 ND4L NAXD ND5 EIF4G1 ND6 CKAP2L MRPS34 GIGYF2 TRPV4 CYP2U1 TRNF PRKCG WDR73 PRKN PNPLA8 FTL NDUFAF6 UQCRQ SERAC1 BSCL2 TRNH TRNK TRNL1 ATM COASY AP4M1 TRNQ TANGO2 SLC39A14 ATP1A2 AP4B1 ATP1A3 TRNS1 SNCA TRNS2 C9ORF72 TRNV TRNW STX16 PCCA PCCB PIK3R5 ANO3 CWF19L1 MMUT HTT PINK1 JPH3 KIF1C TPI1
Focal dystonia
Genes 76
CACNA1A CACNA1B HPCA FLI1 MYF5 POLR1D COL6A1 HSPG2 COL6A2 COLEC11 COL6A3 TUBB3 TIMM8A TUBB4A TH AARS VAC14 DRD2 HINT1 ADRA2B COL12A1 KCNA1 PANK2 KMT2B ATN1 MECR KCNC3 TCOF1 MAPT PARK7 C19ORF12 SCN4A ACTA1 ARX POLR1C CIZ1 SLC19A3 NAA10 TOR1A SCP2 ALDH18A1 CP TRPV4 PLA2G6 SGCE CASR PRKCG MAFB GNA11 FTL GCH1 FGFR3 GNAL FGFR2 TAF1 GNAS COASY COL25A1 SLC39A14 TGM6 PRRT2 ATP1A3 PNKD STX16 CHN1 ATP13A2 THAP1 NEK9 CDK10 ANO3 KCTD17 TWIST1 TBP KIF1C PRKRA SYNGAP1
Limb dystonia
Genes 25
COL4A1 SLC6A3 CACNA1B CKAP2L HPCA COL6A3 TUBB4A TH GCH1 BSCL2 GNAL VPS37A PANK2 TAF1 ATP1A3 MAPT THAP1 SLC18A2 DDC ANO3 VPS13C PARK7 AFG3L2 ARX PRKRA
Paroxysmal dystonia
Genes 5
PNKD SLC2A1 DLAT FARS2 PRRT2
Writer's cramp
Genes 16
CIZ1 TOR1A CACNA1B THAP1 COL6A3 SGCE CASR GNA11 FTL GCH1 DRD2 HINT1 KCTD17 KCNA1 TBP PRRT2