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 480
LIMK1 CFL2 MTAP NEB PSEN1 KCNAB2 MYH7 ND1 NARS2 COX1 PTEN SLC22A5 TIA1 RAF1 KLHL9 DNM2 NUBPL PABPN1 ELN NEB TNNI3 FOXH1 ERGIC1 NDUFAF1 RRM2B ATP6 SYNE2 TRNC TRIM32 GFER DOLK DMD TRNK TRNK TRNL1 ND4 NEB RYR1 AK9 LMNA SLC5A7 AGK TNNT1 COLQ CASQ1 CCDC174 TRNQ SDHB COX3 GCLC NDUFS2 TRNL1 AGK FHL2 MYBPC3 SYNE1 MYH7 PTCH1 SCN4A CHST14 ACTN2 XDH BSCL2 POLG CAV3 COL13A1 MYMK COL6A1 MYH7 HNRNPA1 AGL MAN2B1 SIX3 GAS1 SELENON DYSF COX3 ND4 CHRNE DNAJB6 LMNA PDE8B DES CYTB TPM2 LRP12 LAMA4 PRKAR1A CRPPA TGIF1 TRAPPC11 SELENON DSE TMPO TNNT2 SKI NDUFA11 LAMP2 ORAI1 ABHD5 TRNS1 COL13A1 SGCG FOS CISD2 TRNQ OPA1 FGF8 PLEC PPARG AGPAT2 COLQ TRNS1 GNE HNRNPDL ND5 TIA1 GTF2IRD1 TPM1 PPARG COL6A3 TRNH SDHD ALG14 TDGF1 HNRNPA2B1 MYO9A RNR1 RFC2 INPP5K SDHAF1 SIL1 MYPN AGRN HAND2 ACTA1 ACTA1 TK2 SNAP25 B4GALT1 CRYAB TRNW ORAI1 DPAGT1 B3GALNT2 TMEM43 NEBL NEB ND5 STIM1 TAF1A CHRNB1 RBM20 CLIP2 SCN4A SQSTM1 EMD XK SIL1 ATP6 TPM2 STIM1 TRNS2 CAP2 CHKB CACNA1S AKT1 COX1 DYSF WFS1 ND5 PGAM2 TRNF TRNH SLC25A1 ACADM LRP4 FKTN RYR1 LMNA MYH2 RYR1 CAPN3 ND6 ND6 POLG FLNC ND4L TRNS2 MTMR14 FKRP FKBP14 FKTN DNM2 SLC25A3 LMNB2 NODAL POMT1 CAV1 ABCC9 SLC18A3 CHRND TK2 PRKACA CFL2 RYR1 TKFC COX2 MYH7 TTN DNA2 ACAD9 TPM3 CTNS MGME1 ND2 TTN GFPT1 DSG2 ACACA SAR1B DLL1 SYT2 TRNF HADHB LAMB2 DNM1L ND6 SLC25A4 TRNL1 PRKAG2 CHRNA1 ND6 MTMR14 ND1 OPA1 TRIM32 PLEC RRM2B GMPPB HNRNPA2B1 NALCN KLHL41 ACTA1 VAMP1 HNRNPA1 MYO18B TTN SCN4A FKTN SCN4A ANKRD1 CYTB MYMK PGK1 ALG2 ZBTB20 TRAPPC11 TRNE COL6A2 FHL1 MYBPC3 TRNF TAZ TRNP SGCA B4GALT1 SCN4A TRNQ YARS2 TCAP HADHA CPT2 CDON SDHD CHRNB1 MYOT PRDM16 LMOD3 TXNRD2 CAV3 COX1 HSPG2 COX3 ND4 ANO5 PUS1 GCLC MYF6 FLNC ND1 TPM3 KLHL41 FKBP14 CHRNE GATAD1 SELENON COL12A1 C1QBP VCL COX3 TNPO3 VMA21 CACNA1S PRDM16 VAMP1 CHRND CPT2 AGL TRNI ZIC2 PGK1 FKTN SGCB RAPSN TNNC1 TBCE RERE NEB CYTB MYOT TRNV POMGNT1 MUSK ADGRG6 TAZ TTN COL12A1 ACADL TRMU TWNK MYH14 TPI1 COL6A2 GNE DISP1 TPM2 PNPLA2 POMT1 BIN1 BIN1 POLG ACTA1 MYH7 FKRP DOK7 POLG2 BAZ1B FLAD1 TRNS2 CENPF ABHD5 AP1S2 GK HACD1 ISCU ACTA1 ITGA7 SDHA GMPPB SLC25A4 PPCS PLN MYOT CHRNA1 NDUFB3 ND4L RMND1 FKRP CAVIN1 MYOT TRIP4 NDUFAF4 TRNT ADSS1 TTN MSTO1 TANGO2 PANK2 TRNL1 TTN CRYAB TWNK ANO5 SLC25A4 BSCL2 STIM1 BAG3 ACADS COX2 TRNF SDHA GTF2I EMD PTEN EPG5 HADHB CRYAB KBTBD13 TPM3 PSEN2 TRNP UNC80 TK2 SHH ND1 ND2 VCP MYH7 CHRNB1 SCN5A NEFH ATP6 LMNA MYPN LARGE1 VPS13A CHRNE ACTC1 CDH23 LMNA ALPL TRNW GLI2 LDB3 GYG1 ITGA7 CASQ1 LMNA CHRND LDB3 MYL2 SGCD ND5 CSRP3 COL6A1 TNNT1 PDE11A COL6A3 KLHL40 POMT1 CHAT TBL2 FHL1 ACTA1 LARGE1 RYR1 DES VCP SCN4A GABRD RET SQSTM1 TRNE CHRNB1 POLG HADHA TRNS1 ACTA1 ND5 VCP SUFU TTN POMT2 KBTBD13 TPM3 MAP3K20 MYH6 STIM1 PNPLA2 KLHL41 UBA1 AGRN NEXN ALDOA USP8 TRNK BAG3 FGFR1 FXR1
Protein Mutations 0