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


Muscular dystrophy
Genes 154
BVES AHCY COL12A1 FRG1 DYSF TRAPPC11 CRPPA SYNE2 SGCG POMK PIEZO2 ANO5 DPM3 CHKB COL6A3 CRYAB LMNA BUB1 POMT2 SMCHD1 LIPE ANO5 POMGNT2 TRIM32 DNAJB6 TMEM43 FKRP DAG1 DAG1 BAG3 EMD LMNA POMK CAPN3 POMT2 POMT2 DAG1 LAMA2 SYNE1 POMGNT1 FKRP CRPPA TNPO3 TRAPPC11 SGCA B3GALNT2 SGCA SGCB COL12A1 FKRP POMT2 FKRP POMT1 GK SELENON ITGA7 COL6A2 CRPPA DAG1 SELENON GMPPB POMT1 B3GALNT2 TTN CRPPA POMT2 SGCD SYNE1 INPP5K FKRP LARGE1 POMGNT1 FKTN CAPN3 DYSF NR0B1 PHGDH TRIP13 TMEM43 CAV3 RYR1 POMT1 POMGNT2 LARGE1 DPM1 ACTA1 FKRP POMT2 LMNA COL6A3 HNRNPA1 B4GAT1 DPM3 LARGE1 GMPPB COL6A1 FKRP BUB1B FHL1 LARGE1 TRIP4 PNKP POMT1 PLEC HNRNPA2B1 COL6A2 POMT1 POMK BUB3 DMD LIMS2 TOR1AIP1 FKTN FKTN POMGNT1 POMK PSAT1 POMGNT1 SIL1 PLEC RYR1 FKTN FKRP HNRNPDL MYH7 FKTN COL4A1 RXYLT1 RXYLT1 LMNA LMNA POMT2 TCAP TRAPPC11 FKTN POMT1 POMT1 SYNE2 TTN CEP57 LAMA2 COL6A1 FKTN B4GAT1 GMPPB CRYAB POMGNT1 LMNA TTN GMPPB ANO5 CAVIN1 DMD HNRNPA1
Myopathy
Genes 457
MTMR14 DOK7 COL13A1 POMT2 TRNS2 COX3 ATP6 MYH7 ATP6 ND1 OPA1 CHRNB1 DNA2 MYPN ND5 AGPAT2 TRNS1 MYH7 CHRNE KLHL40 CRYAB FHL2 RAPSN SGCD TGIF1 DSG2 CDON BSCL2 COL6A1 ND2 PLEC DOLK NDUFAF4 COX2 COLQ MYO9A EMD LMNA TRNQ SCN4A SLC18A3 MYH7 TTN FGF8 HNRNPA1 TRNP FKBP14 TRNT TNPO3 SELENON DISP1 ITGA7 CPT2 SDHA COX3 CRYAB WFS1 NUBPL TTN DYSF AP1S2 MYH14 TMEM43 RBM20 CLIP2 NDUFS2 LARGE1 LMNA TRIP4 TAF1A FHL1 MYH7 COL12A1 GLI2 PNPLA2 SCN5A HNRNPA2B1 PGK1 CASQ1 CYTB STIM1 ND5 COL6A1 TBL2 ORAI1 NEB ND5 COX1 FKTN ND4L ATP6 SIL1 TRNK POMT1 RAF1 COX1 CHRNB1 ISCU PGAM2 TPM2 ACTA1 MYBPC3 LARGE1 SLC25A3 MYOT ANO5 LAMB2 SLC5A7 SAR1B MTMR14 GFER SCN4A ACADS SUFU SKI DES SDHAF1 SLC25A4 GTF2I TDGF1 HADHA TWNK ACTN2 PRDM16 CHKB FOS LDB3 DMD CCDC174 DLL1 TRNK CHRND POLG CAV1 SELENON BAG3 KLHL41 RMND1 MUSK ND1 GABRD SIX3 DES VPS13A AGK NODAL ACAD9 TBCE ND1 TAZ POLG EMD TNNT1 TK2 VAMP1 GK TMPO LMOD3 USP8 MYH6 ACTA1 HNRNPA2B1 UBA1 VAMP1 INPP5K XDH ALG14 FLNC GCLC TRNL1 HSPG2 PRKAR1A FGFR1 AGL ACTA1 NEBL TK2 TPM3 SLC25A1 DPAGT1 TRNC CSRP3 MYOT TCAP TPM2 NDUFB3 GNE VCP GYG1 MYL2 CFL2 TTN GMPPB VMA21 LMNA TRNP SDHA B3GALNT2 SIL1 RYR1 SCN4A SYT2 RRM2B RRM2B ND5 ABHD5 HADHA MAP3K20 POLG DNAJB6 TPM2 CACNA1S PTEN SYNE2 STIM1 TRNK HACD1 PPARG PPCS SLC25A4 ND6 TRNF ND4 LDB3 YARS2 PSEN1 TRAPPC11 RYR1 BAZ1B CAPN3 CHRND LMNA POMGNT1 GAS1 TNNT1 SCN4A NEXN ALPL RFC2 RERE COL6A3 DYSF NEFH TRIM32 BAG3 HADHB TRMU CPT2 AGRN XK TWNK SDHD FLNC SCN4A GTF2IRD1 ND6 PANK2 GFPT1 FKRP KBTBD13 TIA1 CACNA1S DNM2 C1QBP ANKRD1 EPG5 BSCL2 TNNI3 PDE11A LRP4 GATAD1 FKRP AK9 TRNV ACTC1 LAMP2 ACACA CTNS TRNH CHRND BIN1 AGK CAV3 TRNW TIA1 B4GALT1 TRNE ELN CAV3 ABCC9 ABHD5 TPM3 TTN CAVIN1 ERGIC1 PTCH1 GCLC DNM2 PUS1 KLHL9 RET ORAI1 ACTA1 CYTB PRKACA SLC25A4 SDHD DNM1L FHL1 PNPLA2 ND6 SLC22A5 KLHL41 HNRNPDL POLG TRNQ CAP2 ND4L SQSTM1 PSEN2 ACTA1 PPARG FKTN ACADL TTN FOXH1 ACADM TRNF COLQ MYOT KBTBD13 TRNL1 MTAP TRNF CHRNE NEB TAZ CYTB ADGRG6 NDUFA11 CFL2 MYMK POMT1 COL6A2 COL6A2 TRNS1 COL12A1 TK2 AKT1 NEB RYR1 CHRNA1 TRNS2 SNAP25 MYH7 TRNL1 TNNT2 LMNB2 POLG2 LRP12 FKTN CENPF SGCG RYR1 ANO5 PRDM16 ACTA1 RYR1 ZIC2 PYGM LMNA PABPN1 PRKAG2 TPM1 MYOT ND4 BIN1 SGCB SYNE1 TPM3 FKRP TRAPPC11 TNNC1 CHAT CISD2 SGCA ADSS1 LIMK1 NARS2 MYPN NDUFAF1 CASQ1 MYH2 ZBTB20 SELENON POMT1 GNE TRNE TTN CRPPA KLHL41 SHH PGK1 ACTA1 CRYAB ALDOA STIM1 COX3 TRNI TXNRD2 PLEC SCN4A MYH7 CHRNB1 OPA1 CHRNB1 NEB ALG2 MYF6 COL6A3 PDE8B LAMA4 MGME1 CDH23 FLAD1 COL13A1 SDHB TPI1 TPM3 ND2 B4GALT1 HADHB PTEN MYO18B FKBP14 LMNA GMPPB CHRNE FKTN KCNAB2 VCL NEB TRIM32 MSTO1 MYMK MYBPC3 VCP CHRNA1 PLN TTN RNR1 ITGA7 AGL STIM1 AGRN HNRNPA1 VCP