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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation D50W

Developed by Shray Alag, 2020-2021.
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 425
TGIF1 TNFSF11 TRNK MAGEL2 PET100 GLRA1 GNE CSPP1 HSPG2 NODAL GNE MAGEL2 TECPR2 BRAF D2HGDH FGFR3 SHH ARL3 NGLY1 LARP7 ND1 BCHE CTNNB1 SLC5A7 PTF1A SCN5A OCA2 NDUFA2 NDUFAF2 CEP120 NEB RPS6KA3 NDN TSEN54 BUB1B FGF8 GAS1 PRPS1 SIM1 FOXH1 CPLANE1 RET SDHA PLCB4 LAMB2 CEP290 TCIRG1 DST ARMC9 CEP41 DLL1 CSPP1 SIX3 MYO9A GABRG2 COL3A1 PEX13 MTHFR DCTN1 PIBF1 FOXH1 SURF1 P4HTM ND4 MECP2 FGFR3 SLC25A20 NDUFS8 CDON COLQ KIAA0586 BRAT1 CC2D2A PLPBP GAS1 PCK1 CREBBP FBP1 NPAP1 SOX9 PCCA FGFR2 AHI1 CDON PHOX2B SLC5A7 INPP5E VPS51 SHH USP7 DISP1 TRNV NDUFAF6 STAT2 ZIC2 SNORD115-1 SH3BP2 DISP1 CHRNE TOE1 FGFR2 DNA2 MKRN3-AS1 GSN FOXH1 LIFR TDGF1 TMEM216 COX15 NDUFA12 HRAS NGLY1 GLI2 FGF8 CDKL5 INPP5E KATNIP SNRPN NADK2 GPHN KIAA0753 SCO2 FGFR1 MKS1 ND5 BTD PWRN1 IPW ASCL1 AP3D1 HTRA2 TMEM216 SCN4A DISP1 GNAI3 STAG2 GPR101 SIX3 KIAA0586 SNRPN SLC19A3 SCO1 TSPYL1 UNC80 ACADSB SCN2A KCNQ2 ZIC2 MECP2 PRMT7 KCNQ3 ND3 PDHA1 SNX10 TERT FGF8 KIAA0586 SHH NDUFS2 NDUFS1 AMER1 CREBBP KIF7 OCA2 HSPD1 NODAL SKI KIF5A CEP57 CEP57 PTCH1 ZIC2 SYT1 ECHS1 CEP120 TRPV4 PURA DLL1 NDUFV1 HMGCL SATB2 RERE TWIST1 NDUFA13 GABBR2 MAGEL2 NDUFA4 PLAA OFD1 CDON SLC6A9 ECHS1 HYLS1 PTCH1 STXBP1 NACC1 GLI2 PWAR1 PLCB4 TCF4 TACO1 AGRN IDUA TCTN2 NDUFS3 PRRT2 LIPT1 SLC18A3 NDN MKRN3 TRNL1 IDS FGFR1 RAI1 TBR1 OCA2 PCGF2 FLCN COQ2 DKK1 LIFR VAMP1 NDUFA11 NONO NDUFA10 CCDC47 ND2 IDUA FGFR3 RPGRIP1L SFTPB ATP5F1A ASCL1 FBN1 ZNF423 NDN SLC2A1 SYT1 CLCN7 KCNQ2 NTNG1 SPOP NDUFB8 CREBBP TMEM237 BUB1 NDUFS7 PDE6D TMEM231 ACY1 TMEM237 NEK1 PIGT TSPYL1 NDUFS8 NDUFAF5 SNORD116-1 PLAA CEP104 PEX5 MCCC1 SLC6A5 CTSD SIX3 LTBP3 EP300 GLI2 ABCA3 RPGRIP1L FAM149B1 SOD1 KCNQ3 FARS2 DNA2 MAGEL2 BRAT1 ATN1 DPAGT1 TMEM107 TCTN1 CDON SRPX2 GNAI3 IDS NDUFV1 SLC39A8 FOXRED1 GABBR2 LRRC32 TMEM216 CISD2 ZIC2 AFF4 GPR101 ADGRG1 EDN3 FOXH1 NDUFA2 EDN1 RARS2 NDUFV2 ARCN1 SCN8A FBP1 GNPTAB FGF8 SNRPN TCF4 ZC4H2 TGIF1 TMEM237 POGZ NDUFAF3 NDUFAF2 CPLANE1 TCTN3 TRNW SMC1A MTFMT SCN4A CHAT TDGF1 SCN2A SLC25A1 PTCH1 RPGRIP1L PRNP GLI2 PDHA1 GAS1 GAS1 DMPK MKS1 SURF1 NDUFS1 PSAP COQ2 ARL13B TGIF1 GLUL AHI1 MAGEL2 GBA KAT6B PI4KA MYO9A ARMC9 RUNX2 GRIN2A PTCH1 COL13A1 SLC18A3 OPA1 TDGF1 AHI1 CSPP1 NFIX AIP NDUFS2 TMEM138 TGIF1 IDS NDN PIBF1 PCCB KCNQ2 NEFH SKI INPP5E NDUFA9 NPHP1 TECPR2 ALPL TDGF1 RET DLL1 SNRPN SHH PHOX2B CPT2 DPH1 CEP290 SIX3 GBA TMEM67 BMP2 CEP41 HERC2 C2CD3 SRPX2 STAG2 SYT2 B9D1 BUB3 ND6 RBM10 FGFR3 EP300 CRYAB MAGEL2 TRIP13 NDUFS4 CC2D2A FXR1 AHDC1 FXR1 INPP5E RNF125 LIAS AHDC1 MECP2 WFS1 NODAL SNAP25 GDNF DLL1 USP7 ATP6 NODAL PRPH TMEM67 CHAT NALCN DISP1 BTD