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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
Conditions
  1. Obstructive Sleep Apnea
  2. Sleep Apnea
  3. Sleep-disordered Breathing
Interventions
  1. Device: Positive Pressure Therapy (PAP)
  2. 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 406
ZIC2 SH3BP2 SNX10 ND4 POGZ NDUFA10 GPR101 NODAL PRNP CTNNB1 FGFR3 NDUFA2 SIX3 SYT1 FGFR3 NDUFS1 DKK1 FGFR3 SYT1 BMP2 RNF125 TSEN54 TRIP13 DISP1 GAS1 FOXH1 TCTN3 BTD MAGEL2 ASCL1 PTF1A TRNL1 CREBBP TNFSF11 HYLS1 CPLANE1 DLL1 AHDC1 SLC25A20 KIAA0586 SIX3 AHDC1 BTD PLPBP MCCC1 NACC1 SCN5A LTBP3 DCTN1 ATP5F1A PRPS1 FOXH1 ATP6 CDON LAMB2 TOE1 TCF4 GNAI3 HERC2 TMEM67 INPP5E LIFR GAS1 FBP1 PWAR1 SOX9 KIF5A TWIST1 TMEM216 TMEM67 SPOP NODAL PEX13 SCN4A VAMP1 TCTN1 SHH FAM149B1 DISP1 MECP2 ECHS1 ND6 RBM10 SCN2A NDUFV1 AIP GLI2 TMEM107 NPAP1 DISP1 TSPYL1 ACADSB PLCB4 SLC18A3 SNORD116-1 SRPX2 FGF8 KCNQ2 TDGF1 KIF7 NPHP1 NDUFA13 LIPT1 GLI2 FGF8 STXBP1 RPGRIP1L CEP41 OPA1 MYO9A IDUA ARMC9 PDHA1 AHI1 IDUA RARS2 SURF1 MECP2 FGFR1 CREBBP NDUFAF2 ARL13B ND1 GNPTAB ABCA3 GABBR2 MKRN3 SCN4A SNORD115-1 WFS1 SRPX2 ATN1 CSPP1 GBA CDON PLCB4 PLAA STAG2 SIX3 CEP104 GNE NGLY1 DST RAI1 TRNV GNAI3 SCN2A RERE PLAA ZIC2 KCNQ2 NDUFS7 NEK1 USP7 FGF8 TMEM231 STAT2 CSPP1 SHH TSPYL1 SURF1 SLC6A9 RET CPLANE1 STAG2 PCGF2 KCNQ3 NODAL SKI BUB1B PTCH1 ZIC2 PRMT7 MTFMT PIBF1 FGFR2 GAS1 PSAP NDUFS3 HMGCL NDUFA11 NDUFAF3 RPS6KA3 HTRA2 NDN NDUFA12 NDUFA9 FLCN TMEM216 CDON TECPR2 NDUFA4 ARL3 SLC6A5 PTCH1 GABBR2 GLI2 MKRN3-AS1 CRYAB EDN1 CCDC47 TCF4 NDUFV2 SLC25A1 MTHFR COQ2 AHI1 ARCN1 FXR1 COX15 PRRT2 NDUFA2 COL13A1 SNRPN DPH1 BUB3 ND3 SMC1A NALCN LARP7 CHAT PCCA SLC18A3 ASCL1 NDUFAF6 PHOX2B TMEM237 GDNF FBN1 TMEM138 TCIRG1 KCNQ2 CDKL5 SLC5A7 SCO2 AMER1 TMEM216 CEP57 NDUFS1 KIAA0753 ZNF423 GPHN CEP41 PIGT DPAGT1 NDUFS2 KIAA0586 NDUFS8 SIM1 BRAT1 CEP120 BRAF D2HGDH P4HTM KATNIP AFF4 LIAS SIX3 SFTPB TDGF1 KAT6B RUNX2 OFD1 USP7 SOD1 KCNQ3 SLC39A8 SLC2A1 HRAS KIAA0586 CTSD B9D1 CDON ADGRG1 TBR1 PDHA1 MAGEL2 CEP290 AHI1 CC2D2A PIBF1 BCHE CHRNE ZIC2 PI4KA FXR1 HSPD1 NONO FOXH1 NDUFAF5 NFIX FGFR3 ECHS1 NDUFS4 SCN8A FGF8 PHOX2B MAGEL2 ACY1 EP300 GLRA1 DNA2 TGIF1 NDUFB8 SDHA NDUFV1 CSPP1 PDE6D TERT ND5 PTCH1 FBP1 FOXRED1 AGRN TDGF1 VPS51 COLQ SNAP25 SHH CC2D2A C2CD3 GLI2 ARMC9 GAS1 INPP5E NDUFS2 SLC19A3 GNE INPP5E TGIF1 NEB MKS1 LIFR TRPV4 SLC5A7 DNA2 SKI NDUFS8 GABRG2 PTCH1 CHAT FOXH1 GBA TMEM237 TGIF1 CLCN7 TECPR2 IPW TCTN2 NGLY1 NEFH BRAT1 TACO1 GLUL ALPL RPGRIP1L PET100 TDGF1 FARS2 TRNW DLL1 SHH RET TGIF1 EP300 RPGRIP1L TRNK CEP120 HSPG2 INPP5E PWRN1 GRIN2A FGFR1 MYO9A TMEM237 BUB1 ND2 FGFR2 CREBBP PCCB NDUFAF2 CEP290 NADK2 NTNG1 CISD2 NODAL MECP2 SYT2 EDN3 DLL1 COQ2 GSN CPT2 DMPK ZC4H2 PEX5 GPR101 COL3A1 PCK1 DLL1 PRPH IDS CEP57 MKS1 UNC80 DISP1