SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT00138684

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Cytochrome P450 2E1 and Iron Overload

The aim of the study is to determine, in patients presenting hepatic iron overload (genetic haemochtomatisis or dysmetabolic iron overload syndrome), the effects of venesection therapy on cytochrome P450 2E1 activity by comparing the rates of metabolization of chlorzoxazone before and after venesection.

NCT00138684 Insulin Resistance Iron Overload
MeSH: Insulin Resistance Iron Overload
HPO: Insulin resistance

1 Interventions

Name: venesection

Description: Venesection therapy is realised every 7 - 14 days until iron desaturation completion.

Type: Procedure

Venesection therapy


Primary Outcomes

Measure: variation of chlorzoxazone metabolization rate measured before and after venesection

Time: Baseline and after iron desaturation completion

Secondary Outcomes

Measure: variation of blood Malonedialdehyde rate

Time: Baseline and after iron desaturation completion

Measure: variation of blood 4-hydroxynonenal rate

Time: Baseline and after iron desaturation completion

Measure: variation of blood Glutathion rate

Time: Baseline and after iron desaturation completion

Measure: variation of serum Vitamin E rate

Time: Baseline and after iron desaturation completion

Measure: Variation of serum Vitamin C rate

Time: Baseline and after iron desaturation completion

Purpose: Treatment

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 C282Y

Inclusion Criteria: - Male patients aged from 18 to 70 years - Hepatic iron overload measured by magnetic resonance imaging [MRI] (> 36 µmol/g and < 200 µmol/L) - Homozygosity for the C282Y mutation of the HFE or dysmetabolic iron overload syndrome (DIOS) based on the presence of at least one of these following metabolic abnormalities: - Overweight: BMI > 25 kg/m2 - Waist/hip circumference (cm) > 0.90 - Diabetes mellitus (fasting blood glucose level >1.25g/L or blood glucose level after 2 hours > 2g/L) or glucose intolerance (fasting blood glucose level between 1.10 and 1.25g/L) - Total cholesterolemia > 6.2 mmol/L or HDL-Cholesterol < 0.9 mmol/L - TG>= 1.7 mmol - Written informed consent Non-Inclusion Criteria: - Consumption of alcohol > 50 g/day and of any CYP2E1 inhibitor substances - Smoker > 5 cigarets/day - History of blood donation or venesection - Other causes of iron overload: aceruloplasminaemia, haematological disorder (abnormal blood counting), late cutaneous porphyria (cutaneous bullous disorders and photosensibilisation) , martial treatment, repeated transfusions. --- C282Y ---

- Inflammatory syndrome (CRP > 3ng/ml) Inclusion Criteria: - Male patients aged from 18 to 70 years - Hepatic iron overload measured by magnetic resonance imaging [MRI] (> 36 µmol/g and < 200 µmol/L) - Homozygosity for the C282Y mutation of the HFE or dysmetabolic iron overload syndrome (DIOS) based on the presence of at least one of these following metabolic abnormalities: - Overweight: BMI > 25 kg/m2 - Waist/hip circumference (cm) > 0.90 - Diabetes mellitus (fasting blood glucose level >1.25g/L or blood glucose level after 2 hours > 2g/L) or glucose intolerance (fasting blood glucose level between 1.10 and 1.25g/L) - Total cholesterolemia > 6.2 mmol/L or HDL-Cholesterol < 0.9 mmol/L - TG>= 1.7 mmol - Written informed consent Non-Inclusion Criteria: - Consumption of alcohol > 50 g/day and of any CYP2E1 inhibitor substances - Smoker > 5 cigarets/day - History of blood donation or venesection - Other causes of iron overload: aceruloplasminaemia, haematological disorder (abnormal blood counting), late cutaneous porphyria (cutaneous bullous disorders and photosensibilisation) , martial treatment, repeated transfusions. --- C282Y ---



HPO Nodes


HPO:
Insulin resistance
Genes 122
LIPC KCNJ11 HNF1A GCGR STAT3 BSCL2 HSD3B2 ABCC8 AGPAT2 INS LMNA LMNB2 LMNA PDX1 ABCC8 ABCC8 INS CAV1 FOS ZMPSTE24 LMNA HYMAI LIPE BSCL2 CIDEC PLIN1 PPARG HYMAI CAV1 XRCC4 ADCY3 SLC2A2 CEP19 IGFALS LMNA MAPK8IP1 TCF7L2 DBH NEUROD1 NSMCE2 AKT2 PPARG XRCC4 IGF1 GATA6 NEUROD1 GCK AKT2 POLD1 PAX4 BSCL2 ALMS1 LMNA PDX1 PMM2 KCNJ11 HNF1A PTF1A HYMAI PLAGL1 HNF1B KLF11 NSMCE2 PIK3R1 BLK LIPE KCNJ11 GPD2 HMGA1 CEL INSR INSR ZFP57 CAV1 LEP ABCC8 SLC12A3 SLC30A8 EIF2AK3 LMNA GCK PDX1 RETN PDX1 CAVIN1 HNF4A IRS1 PIK3R1 ZFP57 PLAGL1 LEPR KCNJ11 ZMPSTE24 GCK MFN2 WFS1 ALMS1 APPL1 DCAF17 ABCC8 PAX4 ZMPSTE24 HSD11B1 AGPAT2 ENPP1 IRS2 HNF4A WRN PTPN1 PPP1R3A LMNA PAX4 PPARG IGF2BP2 KCNJ11 LMNA MTNR1B CLCNKB PPARG CAVIN1 EIF2AK3 CYP19A1