SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT00138684

Developed by Shray Alag, 2019.
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 56
BLK PPP1R3A KLF11 HNF1A HNF1B IGF1 LIPE NEUROD1 IGFALS ZMPSTE24 SLC12A3 CEL LMNA ALMS1 CLCNKB PTF1A INS PIK3R1 POLD1 FOS ABCC8 CYP19A1 CIDEC KCNJ11 AGPAT2 INSR ZFP57 WRN DCAF17 GATA6 PDX1 MFN2 APPL1 PLAGL1 AKT2 CAVIN1 BSCL2 HSD3B2 DBH GCK LMNB2 PAX4 CAV1 HSD11B1 PPARG XRCC4 NSMCE2 PLIN1 HNF4A HYMAI EIF2AK3 LEP LEPR STAT3 CEP19 PMM2