SNPMiner Trials by Shray Alag

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rs4820268 (1) rs10079250 (1) rs1799750 (1) rs9366637 (1) rs4148738 (1) rs10456542 (1) rs25648 (1) rs9984723 (1) rs766996587 (1) rs2398162 (1) rs7291050 (1) rs1011970 (1) rs4253728 (1) rs12143842 (1)

SNPMiner SNPMiner Trials (Home Page)


Report for SNP rs10835211

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Interventional Study of Expiratory Muscle Strength Training as a Treatment in Neuromuscular Disorders

The purpose of this study is to investigate the impact of expiratory muscle strength training (EMST) on the swallowing, breathing, oral intake, quality of life and cough function of people with oculopharyngeal muscular dystrophy (OPMD).

NCT04009408
Conditions
  1. Oculopharyngeal Muscular Dystrophy
  2. Muscular Dystrophies
  3. Myopathy; Hereditary
Interventions
  1. Device: Expiratory muscle strength therapy (EMST150, Aspire LLC)
MeSH:Muscular Dystrophies Muscular Diseases Muscular Dystrophy, Oculopharyngeal Neuromuscular Diseases
HPO:Muscular dystrophy Myopathy

We will measure genetic biomarkers associated with swallowing function including rs6265, rs165599, rs10835211, rs17601696, and APOE4 genotype status.

Primary Outcomes

Description: Global swallowing function is rated from videofluoroscopy swallowing studies (VFSS), using the Dynamic Imaging Grade of Swallowing Toxicity (DIGEST), a validated 5-point scale. Global swallowing function is rated from 0-4: 0 = no pharyngeal dysphagia; 1 = mild; 2 = moderate; 3 = severe; 4 = life-threatening. A lower score is a better outcome.

Measure: Global Swallowing Function

Time: Change in score from week 0 to week 5

Secondary Outcomes

Description: Global swallowing function is rated from videofluoroscopy swallowing studies (VFSS), using the Dynamic Imaging Grade of Swallowing Toxicity (DIGEST), a validated 5-point scale. Global swallowing function is rated from 0-4: 0 = no pharyngeal dysphagia; 1 = mild; 2 = moderate; 3 = severe; 4 = life-threatening.

Measure: Global Swallowing Function

Time: Change in score from week 0 to week 15; change in score from week 5 to week 15.

Description: MEP is a measure of respiratory muscle strength and is assessed with a handheld manometer, measured in centimetres of water (cmH2O). A higher score is a better outcome.

Measure: Maximum expiratory pressure (MEP)

Time: Change in score from week 0 to week 5; change in score from week 0 to week 15; change in score from week 5 to week 15.

Description: Measure of cough strength that is assessed using a spirometer, measured in litres per minute (L/min). A higher score is a better outcome.

Measure: Volitional cough strength (peak cough flow)

Time: Change in score from week 0 to week 5; change in score from week 0 to week 15; change in score from week 5 to week 15.

Description: Measure of how much air is exhaled during forced exhalation and is assessed with a spirometer, measured in litres. A higher score is a better outcome.

Measure: Forced vital capacity (FVC)

Time: Change in score from week 0 to week 5; change in score from week 0 to week 15; change in score from week 5 to week 15.

Description: A measure daily nutritional and hydration consumption. Oral intake is assessed using the Functional Oral Intake Scale (FOIS), a validated 7-point ordinal scale (1 = no oral intake; 2 = tube dependent with minimal/inconsistent oral intake; 3 = tube supplements with consistent oral intake; 4 = total oral intake in single consistency; 5 = total oral intake of multiple consistencies requiring special preparation; 6 = total oral intake with no special preparation, but must avoid specific foods or liquid items; 7 = total oral intake with no restrictions). A higher score is a better outcome.

Measure: Oral Intake

Time: Change in score from week 0 to week 5; change in score from week 0 to week 15; change in score from week 5 to week 15.

Description: Will be measured using the Eating Assessment Tool-10 (EAT-10), a self-administered, symptom-specific outcome instrument for dysphagia. The EAT-10 allows patients to rate their swallowing symptoms on scale of 0 = no problem to 4 = severe problem. A lower score is a better outcome.

Measure: Self-perceived swallowing impairment

Time: Change in score from week 0 to week 5; change in score from week 0 to week 15; change in score from week 5 to week 15.

Description: An optional blood sample will be collected for biomarker analysis, to identify correlations with clinical response. We will measure genetic biomarkers associated with swallowing function including rs6265, rs165599, rs10835211, rs17601696, and APOE4 genotype status. For these 5 genetic biomarkers, participants will be scored as having zero, one, or two alleles. This information will be used in subgroup analyses for the primary and secondary outcomes.

Measure: Biomarker analyses

Time: Baseline measurement (week 0)


HPO Nodes


HP:0003198: Myopathy
Genes 481
TRNS1 LMNA LAMA4 CHRNA1 VCP FOXH1 TRNL1 TNNT2 RAF1 PPCS MYO18B LIMK1 ITGA7 ND2 POLG NEB PGAM2 YARS2 CASQ1 AGK HADHA GNE CDON ADGRG6 TRNE GFPT1 ND1 RYR1 RYR1 MAP3K20 VAMP1 TTN SYNE2 FKRP HNRNPDL COX3 CYTB TMEM43 SCN4A FKTN FGF8 MUSK ACTA1 CDH23 EMD ELN LDB3 POLG GMPPB SLC25A4 TRIM32 FHL1 COX2 SDHA LRP4 GTF2I CRYAB AKT1 FLNC SCN5A CACNA1S CFL2 CHRNB1 MYBPC1 COX1 AGL NDUFAF4 KLHL41 MSTO1 ND2 LAMB2 TPM3 TRNQ SIL1 KLHL41 PUS1 TIA1 ORAI1 DSG2 PLN TRNK TRIM32 TNNT1 TRNH NEB TRNP HADHB RET TPM2 EPG5 ISCU SIX3 CHRNE COL13A1 ACTA1 TRIP4 POMT1 ND1 VAMP1 FKBP14 CHRNB1 MYF6 ADSS1 GMPPB KLHL40 CSRP3 LMNB2 SCN4A B4GALT1 DSE TRNI ACADM TNPO3 OPA1 LARGE1 COL12A1 SELENON TRNE ACTA1 RERE ACTA1 BAG3 PRDM16 TWNK COL6A1 DLL1 PTEN PDE11A AP1S2 TAF1A CHST14 MYOT TRNS2 TK2 MYOT TRNS1 POMT1 CCDC174 PRKACA TK2 CYTB FHL1 TRNK MYH7 GNE OPA1 NEB NODAL LMNA LDB3 MYBPC3 MYOD1 COX3 ND5 GIPC1 MYH7 TTN WFS1 ND4 ALPL TBCE ACADS ND5 ND1 NEXN DES ZBTB20 UBA1 LMOD3 INPP5K ALDOA ORAI1 MTAP PLEC MTMR14 COX1 CAV3 ND6 SIL1 LMNA ATP6 NARS2 NEFH TRNH VCP TRAPPC11 SDHD HNRNPA2B1 TRNK PLEC LMNA MYOT LMNA RYR1 TPM1 CYTB COLQ PRKAR1A KBTBD13 RRM2B FHL2 CHRND LRP12 MYH7 BIN1 TPM2 PSEN2 SGCD TAZ TRNP SYNE1 CHRND EMD ZIC2 ATP6 GAS1 NDUFA11 CHRNA1 CAV3 TRNF FKTN TDGF1 B3GALNT2 MYH7 ACTN2 SLC25A4 TRMU MYH2 PABPN1 TGIF1 BAG3 DNM1L DNM2 CAPN3 XK HADHA ALG14 FLAD1 SGCB MYH7 TCAP MYH6 GCLC DISP1 RBM20 TPM3 SDHA ACACA SLC25A1 TIA1 TRNL1 GATAD1 GLI2 LARGE1 COX1 SCN4A ND5 SLC25A4 STIM1 C1QBP FXR1 SELENON STIM1 RYR1 TPM2 COL13A1 TRNL1 SLC22A5 ND6 SQSTM1 NALCN SCN4A CHAT SUFU ANO5 SLC18A3 ABCC9 HAND2 COL6A1 COL12A1 ACTA1 USP8 SCN4A PRKAG2 CHRNE CHKB FKBP14 TNNI3 PDE8B PNPLA2 XDH ND4 FKTN SGCG PANK2 TNNT1 CLIP2 FKRP TPI1 CACNA1S NDUFS2 POLG GK HNRNPA1 MYH14 PTEN TNNC1 MAN2B1 BAZ1B HNRNPA1 DYSF SDHD ND4L KLHL41 RMND1 AGK TPM3 ACTC1 TRNQ TRNQ RRM2B TTN RFC2 ABHD5 POMT1 PSEN1 MYBPC3 DPM3 ND5 DOLK TRNF MYPN VCP FGFR1 ANKRD1 MYL2 SAR1B DNM2 ERGIC1 CRPPA ABHD5 AGL TK2 CENPF CHRNE MYPN STIM1 HACD1 PGK1 FXR1 COX3 HADHB DOK7 MYMK CHRND ND1 ACADL ACTA1 DPAGT1 GABRD POLG2 MTTP TAZ GFER DNA2 ACAD9 VMA21 SLC25A3 KCNAB2 ATP6 ND6 POMGNT1 TRNW FKTN TRNS2 SDHAF1 DES PTCH1 VCL AGRN TRNL1 COLQ SNAP25 ND4 MGME1 COX2 CPT2 DHX16 TMPO TKFC TWNK SQSTM1 CRYAB LMNA SKI ACTA1 CHRNB1 TRNF KLHL9 AGRN TRNV ANO5 KBTBD13 BSCL2 NEB ALG2 RNR1 GCLC NDUFB3 GTF2IRD1 SHH DYSF COL6A3 B4GALT1 DNAJB6 ND4L FKRP SLC5A7 TRNF POMT2 RAPSN CAP2 TTN RYR1 COL6A2 TRAPPC11 TTN SCN4A VPS13A CTNS MYH7 COX3 COL6A2 TRNW DMD COL6A3 TRNC HNRNPA2B1 AK9 PNPLA2 ITGA7 NEB HSPG2 COMP ND6 MYO9A TTN MTMR14 POLG MYMK TRNT TXNRD2 LAMP2 SELENON NDUFAF1 STIM1 SGCA ND5 TANGO2 MYOT BIN1 NUBPL CISD2 SYT2 CASQ1 NEBL TBL2 CHRNB1 FLNC PGK1 TTN CFL2 PRDM16 TPM3 PPARG CRYAB TRNS2 TRNS1 UNC80 GYG1 SDHB
Protein Mutations 0