SNPMiner Trials by Shray Alag


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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 Oculopharyngeal Muscular Dystrophy Muscular Dystrophies Myopathy; Hereditary 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 463
LMNA TCAP EPG5 SGCB MYOT CYTB POMT2 XK COX3 ND5 TRNS2 TAZ TWNK RRM2B POMGNT1 TMPO BSCL2 CHRND GABRD ND4 CAP2 MYO18B COX3 GYG1 BSCL2 TRNS1 DSE TNNT1 CHKB ADGRG6 LMNA ZBTB20 MYOT PABPN1 HADHA WFS1 ATP6 TRNT ACTN2 POLG SUFU ND4L CHST14 LRP4 CYTB NEB PGK1 INPP5K AKT1 SLC5A7 GFER FKRP GLI2 TRNS1 ACTA1 ND2 TK2 FGF8 TDGF1 LMNB2 ACADM FHL1 ANO5 HNRNPA2B1 DYSF PPCS PDE11A NDUFA11 FOS PGK1 TPM3 SIL1 RAPSN FLNC TNNT2 B4GALT1 ND1 EMD CHRNA1 DNM2 COL6A2 ACADS ND6 VAMP1 LDB3 TRNK ATP6 RYR1 DES RMND1 ND5 HADHA PSEN2 PTEN COL12A1 CHRNB1 ADSS1 TRNS2 COX2 CENPF FKTN BIN1 ACACA POLG2 RAF1 HNRNPA1 ACTC1 SYNE1 TRNH HACD1 AGK POLG SYNE2 FKBP14 ZIC2 SLC25A4 CHRNE NUBPL TTN TRMU LAMB2 TPM2 RYR1 SDHB FKRP KLHL41 PDE8B YARS2 NDUFAF4 TRNL1 GATAD1 XDH FHL2 MYH7 LDB3 CFL2 COL6A3 POMT1 MYMK ATP6 CHRND NDUFB3 HADHB PNPLA2 RNR1 GNE AGL CASQ1 VPS13A NEBL DYSF POMT1 FLNC DISP1 CTNS AGK LMOD3 ND2 UNC80 STIM1 LAMA4 STIM1 RYR1 ANO5 ALDOA TPM3 LMNA TTN TRNE CPT2 COL6A1 EMD SIX3 SDHD AGRN ALG2 MYH14 TRNQ SNAP25 CAV1 HADHB FHL1 ELN SLC25A1 COX1 B3GALNT2 OPA1 TIA1 PLN RYR1 CAPN3 CRPPA FKTN TRNF MTMR14 TRIM32 KBTBD13 ND5 DOLK ORAI1 PPARG DLL1 HNRNPA2B1 ABHD5 SLC18A3 GCLC SCN5A CSRP3 VCP PUS1 CHRNB1 RFC2 TRIM32 MUSK DOK7 LAMP2 ND6 LMNA TXNRD2 MYL2 POMT1 TANGO2 AP1S2 TRNL1 FKTN SCN4A CASQ1 SCN4A CHAT DSG2 CHRNB1 TRNC TRNI SDHD NODAL TPM2 TRAPPC11 PNPLA2 ACTA1 ACTA1 PRDM16 COLQ COLQ TBCE VAMP1 CRYAB FKTN GNE NDUFAF1 MYBPC3 SKI MYOT CYTB TAZ KCNAB2 TK2 SLC25A3 CPT2 AGPAT2 CISD2 MYH7 SELENON LIMK1 PRKAG2 GFPT1 TBL2 HNRNPA1 ND5 GK USP8 TPM3 CHRNE NDUFS2 TWNK TRNF ITGA7 TGIF1 FLAD1 ISCU DNM1L COX3 RERE GMPPB TNNC1 MAP3K20 SIL1 ACAD9 TNNT1 VCL TRNW BIN1 SDHA KLHL40 RYR1 TPI1 MYH7 LARGE1 DNA2 TTN UBA1 KLHL9 CAV3 FGFR1 TTN ACADL POLG TRNF CHRND CLIP2 LARGE1 BAG3 ANKRD1 ORAI1 CACNA1S MTMR14 RET ACTA1 ND1 C1QBP STIM1 HSPG2 GAS1 PANK2 SHH CRYAB FOXH1 CRYAB TPM2 TRAPPC11 COL6A1 AGL VCP PLEC ABHD5 ND6 ACTA1 SCN4A ITGA7 MTAP MSTO1 TRNK TRNQ NARS2 MYO9A KLHL41 AGRN RRM2B MYH7 TMEM43 COL6A3 CCDC174 POLG TRNP ERGIC1 SDHAF1 PSEN1 CDH23 BAG3 ALG14 TRNV TK2 TRNP LMNA VMA21 SGCA LRP12 CHRNE PLEC SCN4A TNNI3 MYBPC3 SAR1B NEB SDHA TTN TPM1 RBM20 MYH7 NALCN TTN MYF6 SQSTM1 ACTA1 SGCG COL12A1 MYPN TRNE DNAJB6 MGME1 GTF2I ND4L MYMK SQSTM1 GMPPB TNPO3 MYH2 FKRP MYPN LMNA STIM1 OPA1 NEXN NEB GCLC PYGM KBTBD13 NEB ALPL COL13A1 SGCD CFL2 NEB AK9 ND4 TRNK ABCC9 TRIP4 DNM2 CACNA1S PGAM2 COX1 SELENON NEFH PRKACA CAVIN1 TTN PTCH1 B4GALT1 SCN4A PPARG BAZ1B DES SCN4A PRDM16 MYH7 SLC22A5 FKBP14 COL13A1 TPM3 KLHL41 ND1 CHRNA1 PTEN HNRNPDL DMD CAV3 ACTA1 SLC25A4 SLC25A4 COL6A2 PRKAR1A SYT2 DPAGT1 CDON MYOT TAF1A VCP MYH6 CHRNB1 TIA1 TRNL1 SELENON GTF2IRD1
Protein Mutations 0