SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


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


HP:0002104: Apnea
Genes 330
TRNF NDUFS7 DKK1 MKRN3-AS1 KIAA0586 CSPP1 PHOX2B OPA1 PRPH CTSD NDUFS1 USP7 CEP104 NGLY1 CPT2 COLQ GPR101 SLC2A1 PIGT VAMP1 TMEM237 PLCB4 EDN1 NDUFAF3 SKI FGFR3 MECP2 PWRN1 TRNL1 CHAT CC2D2A CISD2 RBM10 BUB1 BRAT1 SOD1 SCO2 PLAA PHOX2B MKS1 IDUA RET ND4 NADK2 SCN4A NDUFA9 GBA SLC6A9 CEP290 WFS1 TACO1 INPP5E DPH1 TCTN1 CEP290 RUNX2 CPLANE1 NDUFV1 MKS1 AMER1 TRNK KIAA0586 ASCL1 OFD1 TCF4 GDNF PIBF1 MCCC1 HERC2 TCTN2 GSN ND1 NDUFAF2 HSPD1 NEB GPHN PLCB4 PRMT7 CSPP1 TWIST1 SLC5A7 CLCN7 ASCL1 SFTPB COX2 GNE FOXRED1 AFF4 FAM149B1 DNA2 SURF1 ARCN1 TMEM67 NPHP1 CRYAB HTRA2 PEX5 NDUFS3 KIAA0556 KIF7 TMEM216 FBP1 GNE NDUFA11 ND3 PCGF2 LARP7 MYO9A LIAS AHDC1 FGFR3 TRNQ BUB1B PCCB SRPX2 RPGRIP1L ATP5F1A HSPG2 NDUFB8 CC2D2A GNAI3 TMEM138 SNORD116-1 CEP41 TBR1 IPW GNAI3 PTF1A TMEM107 PLPBP KCNQ2 INPP5E INPP5E TSPYL1 TMEM216 NFIX TRNS1 TMEM67 SLC25A20 NDUFS8 NEK1 NDUFS2 CTNNB1 FBN1 MAGEL2 COQ2 PCK1 FARS2 GABBR2 GPR101 COQ2 NGLY1 GLRA1 NDUFA13 MYO9A TRNL1 KIAA0753 RET FBP1 RNF125 PSAP TMEM237 NDUFS4 MKRN3 BRAF CHRNE PRNP LIFR ATN1 IDUA COL3A1 LAMB2 BMP2 FGFR2 SLC52A2 TECPR2 GABRG2 NDUFA2 TNFSF11 SDHA ZC4H2 NDUFAF2 NDN TCF4 NDUFAF5 B9D1 ND1 TCIRG1 CEP120 C2CD3 TRIP13 SNORD115-1 ARL13B CSPP1 NDUFA12 NACC1 BRAT1 ND6 SNX10 NALCN ECHS1 RARS2 BTD ACY1 SLC6A5 SKI NDUFV2 ND2 SLC5A7 AIP RPS6KA3 PDHA1 CPLANE1 PRPS1 GBA ND5 TSPYL1 DCTN1 MTFMT TRNW COX3 GLUL TSEN54 PLAA LIFR HMGCL DNA2 P4HTM CEP120 UNC80 PDE6D PCCA NDUFS2 SCN2A NDUFA4 TRNH D2HGDH LTBP3 COX1 SCN5A FGFR3 AHI1 NDUFA2 FGFR3 ND5 NDUFAF6 ATP6 ND4 AGRN ZNF423 TRNS2 HRAS SNAP25 COL13A1 RPGRIP1L ALPL MAGEL2 CEP57 NONO TCTN3 SNRPN SH3BP2 TECPR2 SLC25A1 KIAA0586 PWAR1 FGFR2 CCDC47 BUB3 POGZ SLC19A3 FLCN RPGRIP1L KIF5A PDHA1 NPAP1 NDUFS1 PEX13 PET100 ABCA3 TMEM237 NDUFS8 RAI1 ECHS1 TOE1 AHI1 SLC52A3 TRNV SLC18A3 SOX9 SLC18A3 CEP57 TMEM216 DST LIPT1 MECP2 CEP41 ARL3 SYT2 KAT6B GRIN2A NDUFV1 AHDC1 IDS HYLS1 SYT1 ND6 TMEM231 SYT1 SLC39A8 AHI1 SURF1 ACADSB EDN3 TRPV4 INPP5E BTD EP300 RERE ARMC9 ARMC9 CHAT COX15 PIBF1 NDUFA10 CREBBP SCN4A NEFH DPAGT1 TRNW