SNPMiner Trials by Shray Alag


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Report for Mutation D50W

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Sleep, Obesity, and Metabolism in Normal and Overweight Subjects: Effects of CPAP on Glucose Metabolism

Obstructive sleep apnea affects approximately 2-4% of middle-aged adults in the general population and is associated with several medical conditions including hypertension and coronary artery. Research over the last decade has shown that obstructive sleep apnea may also increase the propensity for insulin resistance, glucose intolerance, and type 2 diabetes mellitus. Positive airway pressure (PAP) is the first line therapy for the treatment of obstructive sleep apnea. While PAP therapy has several favorable effects such as improvements in daytime sleepiness and quality of life, it is not clear whether using PAP therapy can alter metabolic risk. The overall objective of this study is to examine whether treatment of obstructive sleep apnea with positive airway pressure therapy improves glucose tolerance and insulin sensitivity. The primary hypothesis of this study is that PAP therapy of obstructive sleep apnea will improve in insulin sensitivity and glucose metabolism.

NCT01503164 Obstructive Sleep Apnea Sleep Apnea Sleep-disordered Breathing Device: Positive Pressure Therapy (PAP) Behavioral: LifeStyle Counseling
MeSH: Apnea Sleep Apnea Syndromes Sleep Apnea, Obstructive Respiratory Aspiration
HPO: Apnea Obstructive sleep apnea Sleep apnea

This test requires administration of a weight-adjusted dose of D50W as an IV bolus at time "zero". --- D50W ---

Primary Outcomes

Description: Insulin sensitivity will be determined with the insulin-modified frequently sampled intravenous glucose tolerance test (IVGTT) before and 2-months after study intervention. This test requires administration of a weight-adjusted dose of D50W as an IV bolus at time "zero". After the glucose bolus, blood samples are drawn at the scheduled times for 3-hours. At the 20-minute mark, a weight-adjusted dose of regular insulin is administered. The resulting serum is analyzed for glucose and insulin and the "minimal model" (MINMOD) will be used to derive insulin sensitivity. A low SI signifies low insulin sensitivity and high SI represents high insulin sensitivity.

Measure: Insulin Sensitivity (SI)

Time: Baseline

Description: Insulin sensitivity will be determined with the insulin-modified frequently sampled intravenous glucose tolerance test (IVGTT) before and 2-months after study intervention. This test requires administration of a weight-adjusted dose of D50W as an IV bolus at time "zero". After the glucose bolus, blood samples are drawn at the scheduled times for 3-hours. At the 20-minute mark, a weight-adjusted dose of regular insulin is administered. The resulting serum is analyzed for glucose and insulin and the "minimal model" (MINMOD) will be used to derive insulin sensitivity. A low SI signifies low insulin sensitivity and high SI represents high insulin sensitivity.

Measure: Insulin Sensitivity (SI)

Time: 2 months after intervention

Secondary Outcomes

Description: Glucose effectiveness is the ability for glucose to move intracellularly in the absence of insulin. It is a parameter that results from the MINMOD analysis of the serum glucose and insulin levels derived from the frequently sampled intravenous glucose tolerance test. Low SG indicates a lower predisposition for glucose disposal independent of any effects of insulin.

Measure: Glucose Effectiveness (SG)

Time: Baseline

Description: Glucose effectiveness is the ability for glucose to move intracellularly in the absence of insulin. It is a parameter that results from the MINMOD analysis of the serum glucose and insulin levels derived from the frequently sampled intravenous glucose tolerance test. Low SG indicates a lower predisposition for glucose disposal independent of any effects of insulin.

Measure: Glucose Effectiveness (SG)

Time: 2 months after intervention

Description: The disposition index is the mathematical product of insulin sensitivity (SI) and acute insulin response to glucose (AIRG) both of which are derived from the MINMOD analysis of the frequently sampled intravenous glucose tolerance test data. A low DI is indicative of a higher risk of developing diabetes.

Measure: Disposition Index (DI)

Time: Baseline

Description: The disposition index is the mathematical product of insulin sensitivity (SI) and acute insulin response to glucose (AIRG) both of which are derived from the MINMOD analysis of the frequently sampled intravenous glucose tolerance test data.

Measure: Disposition Index (DI)

Time: 2 months after intervention

Description: The acute insulin response to glucose (AIRG) value is derived from the MINMOD analysis of the glucose and insulin levels obtained during the frequently sampled intravenous glucose tolerance test. A low AIRG indicates decreased ability of the pancreas to secrete insulin.

Measure: Acute Insulin Response to Glucose (AIRG)

Time: Baseline

Description: The acute insulin response to glucose (AIRG) value is derived from the MINMOD analysis of the glucose and insulin levels obtained during the frequently sampled intravenous glucose tolerance test. A low AIRG indicates decreased ability of the pancreas to secrete insulin.

Measure: Acute Insulin Response to Glucose (AIRG)

Time: 2 months after intervention

Description: Endothelial function will be assessed using peripheral arterial tonometry using the Endo-PAT device. Using the EndoPat device, the relative vasoconstriction of occluded versus non-occluded arms was derived and provided the relative hyperemic index.

Measure: Endothelial Function

Time: Baseline

Description: Endothelial function will be assessed using peripheral arterial tonometry using the Endo-PAT device. Using the EndoPat device, the relative vasoconstriction of occluded versus non-occluded arms was derived and provided the relative hyperemic index.

Measure: Endothelial Function

Time: 2 month after intervention

Description: Results of the oral glucose tolerance test will be analyzed using indices derived from the serial glucose and insulin levels over the 2 hour period. This will be the area under the glucose/ insulin curves

Measure: Area Under the Curve Assessed by Oral Glucose Tolerance Test

Time: Baseline

Description: Results of the oral glucose tolerance test will be analyzed using indices derived from the serial glucose and insulin levels over a 2 hour period 2 months post intervention. This will be the area under the glucose/ insulin curves

Measure: Area Under the Curve Assessed by Oral Glucose Tolerance Test (OGTT)

Time: 2 month after intervention


HPO Nodes


Obstructive sleep apnea
Genes 35
AGRN SLC18A3 IDS SYT2 CCDC47 NFIX HRAS NGLY1 SLC25A1 POGZ PCGF2 DNA2 SNAP25 CHAT SH3BP2 IDUA FGFR3 EP300 TRPV4 CREBBP SKI DNA2 IDUA PLCB4 SLC5A7 GNAI3 AHDC1 COL13A1 NONO ARCN1 EDN1 VAMP1 BMP2 ATN1 MYO9A
Sleep apnea
Genes 96
SNRPN SNORD116-1 NDN CCDC47 PRPH SRPX2 CEP57 MAGEL2 FGFR2 MKRN3-AS1 SLC25A1 FGFR3 CTNNB1 RERE PCGF2 DNA2 SNAP25 RET IPW MAGEL2 SH3BP2 EP300 PWAR1 TCF4 NPAP1 SLC52A2 FLCN LARP7 FGFR3 GABRG2 SLC52A3 SYT1 GPR101 DNA2 NGLY1 PLCB4 COQ2 GPR101 MKRN3 TWIST1 AHDC1 COL13A1 P4HTM ARCN1 SOD1 GSN COLQ ASCL1 ATN1 MYO9A AGRN RUNX2 COQ2 GRIN2A NADK2 DCTN1 SLC18A3 IDS SYT2 SNORD115-1 RAI1 NFIX HRAS NGLY1 LTBP3 PRPS1 TSPYL1 POGZ CHAT IDUA FGFR3 AIP FGFR2 TCF4 TRPV4 GNE BRAF PWRN1 FGFR3 CREBBP SKI PHOX2B IDUA DKK1 COL3A1 LAMB2 SLC5A7 GNAI3 GNE RPS6KA3 NONO HERC2 EDN1 VAMP1 BMP2 NEFH
Apnea
Genes 319
ACY1 KCNQ2 SNORD116-1 ND5 PLAA CPLANE1 PRPH NDUFA4 PDE6D TRNW ECHS1 ND6 COX15 DNA2 KIF7 CHRNE TRNV ND4 NDUFS8 ARL3 SLC2A1 NDUFAF3 TCTN1 MCCC1 NDUFS3 GPR101 MKRN3 GLRA1 CEP290 GBA CSPP1 SOD1 SURF1 GSN COLQ FBP1 PCK1 ASCL1 ATN1 MYO9A NDUFS4 AGRN TMEM216 TRNQ ASCL1 GABBR2 SLC19A3 GDNF SLC25A20 NADK2 SLC18A3 HMGCL SCN4A RPGRIP1L IDS SLC39A8 NGLY1 LTBP3 CC2D2A PRPS1 NDUFS7 MECP2 HTRA2 TECPR2 FGFR3 INPP5E FGFR2 TSEN54 BRAF PWRN1 FGFR3 ND2 DKK1 MKS1 WFS1 INPP5E PLPBP EDN3 RPGRIP1L SURF1 PCCB AMER1 TRIP13 CCDC47 CEP57 PHOX2B CLCN7 PTF1A CTNNB1 BTD TRNF PLCB4 BTD NDUFS2 EP300 OFD1 BUB1B OPA1 PSAP FLCN TMEM67 GABRG2 SYT1 NDUFS2 COQ2 KAT6B BUB3 NDUFS1 TWIST1 HYLS1 AHDC1 CEP104 TMEM216 RET RUNX2 ZNF423 TCTN3 SNORD115-1 RAI1 CSPP1 PIBF1 TSPYL1 PDHA1 MKS1 TSPYL1 MYO9A FAM149B1 TMEM237 NDUFAF2 BRAT1 ND6 SCN2A NDUFS1 IDUA AIP SKI GNE ACADSB CEP41 ND5 ECHS1 GPHN LAMB2 SLC5A7 CTSD KIF5A ALPL RPS6KA3 NONO HERC2 LIFR BRAT1 NDUFA11 TMEM138 CC2D2A SNRPN LIFR TMEM67 TNFSF11 SRPX2 KIAA0586 ATP5F1A NDUFA2 RPGRIP1L FGFR2 KIAA0586 FGFR3 TRNH SNAP25 RET RARS2 ND3 IPW MAGEL2 SCN5A SLC6A5 BUB1 INPP5E NPAP1 TCTN2 LARP7 FGFR3 B9D1 NDUFV1 SLC52A3 TRNL1 DNA2 PRNP ND4 NGLY1 CEP120 PEX5 SDHA INPP5E P4HTM ARCN1 SLC18A3 NDUFAF6 ABCA3 NDUFA2 ARMC9 COQ2 GRIN2A TMEM237 DCTN1 SFTPB TACO1 HSPD1 KIAA0753 NDUFAF2 TRNS2 CEP290 SCN4A SNX10 CEP41 PIBF1 NDUFA10 NDUFV2 CHAT CISD2 NDUFAF5 FARS2 TRNS1 KIAA0556 NDUFB8 CHAT RNF125 TMEM107 TCF4 NDUFV1 TRPV4 TOE1 PHOX2B IDUA GNAI3 TRNL1 EDN1 VAMP1 TMEM231 CPT2 DPAGT1 ND1 LIPT1 HSPG2 NDN COX1 MECP2 FBN1 KIAA0586 MAGEL2 CEP120 TMEM216 MKRN3-AS1 SLC25A1 SLC5A7 RERE PCGF2 NDUFA12 AHI1 NDUFA13 ND1 GLUL TMEM237 SH3BP2 D2HGDH SCO2 PWAR1 TCF4 AHI1 ARMC9 SLC52A2 GNAI3 NDUFA9 NEK1 TRNW COX3 RBM10 SLC6A9 LIAS GPR101 AHI1 PLCB4 TRNK COL13A1 COX2 SOX9 MTFMT PDHA1 TECPR2 SYT2 NFIX HRAS PLAA POGZ NPHP1 DST PET100 TCIRG1 PCCA NEB GBA CEP57 CPLANE1 FOXRED1 TBR1 CRYAB ATP6 CREBBP SKI PEX13 ARL13B COL3A1 GNE ZC4H2 CSPP1 FBP1 BMP2 NDUFS8 NEFH