SNPMiner Trials (Home Page)
Report for Mutation E6V
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
1 Glucose Metabolism in Sickle Cell Disease
The purpose of the study is to better understand how the body handles sugars glucose and fats, such as cholesterol and triglycerides in sickle cell disease, and what puts certain persons at risk to develop diabetes. This understanding may help us to find new treatments to control blood sugar and prevent diabetes in people with and without sickle cell disease (SCD). In this research, DNA and RNA will be isolated from blood cells. DNA will be used to find genes that cause or protect from diabetes, high cholesterol and high triglyceride, and RNA will be used for studies designed to find out how genes are doing their job of eventually producing proteins.
NCT02922296 Sickle Cell Disease Diabetes Mellitus MeSH:Anemia, Sickle Cell
The investigators will analyze the expression of transcripts to determine if alterations can explain the clinical observations.. Inclusion Criteria: - Major sickling genotype (hemoglobin SS, Sbeta0-thalassemia, SOarab, SDpunjab) - Age >35 years - BMI <25 kg/m2 or >26 kg/m2 - Steady state, defined as >two weeks from a hospitalization for vaso-occlusive crisis, infection or surgery and not requiring immediate parenteral medication for pain control - Fasting state (>8 hours since ingesting food or medication for diabetes) Exclusion Criteria: - Patients receiving insulin therapy - Acute inflammatory or infectious illness or injury Inclusion Criteria: - Major sickling genotype (hemoglobin SS, Sbeta0-thalassemia, SOarab, SDpunjab) - Age >35 years - BMI <25 kg/m2 or >26 kg/m2 - Steady state, defined as >two weeks from a hospitalization for vaso-occlusive crisis, infection or surgery and not requiring immediate parenteral medication for pain control - Fasting state (>8 hours since ingesting food or medication for diabetes) Exclusion Criteria: - Patients receiving insulin therapy - Acute inflammatory or infectious illness or injury Sickle Cell Disease Diabetes Mellitus Anemia, Sickle Cell Sickle cell disease (SCD) is due to homozygosity for a Glu6Val mutation in HBB (sickle cell anemia; hemoglobin SS) or to compound heterozygous forms like hemoglobin SC disease and hemoglobin S-β thalassemia. --- Glu6Val ---
Primary Outcomes
Description: The investigator will use the ATP III guidelines for definition of metabolic syndrome. A combination of any three of the following criteria will lead to the designation of metabolic syndrome: waist circumference >102 cm (men) or >88 cm (women) triglycerides ≥150 mg/dL HDL cholesterol <40 mg/dL (men) or <50 mg/dL (women) blood pressure ≥130/≥85 mg/dL (or recorded diagnosis of hypertension and use of antihypertensives) fasting glucose ≥110 mg/dL (or diagnosis of diabetes and use of anti-diabetic medications)
Measure: Metabolic status of adult SCD subjects Time: through study completion, approximately one year after subject participationSecondary Outcomes
Description: This will be accomplished by DNA linkage analysis and/or mutation analysis. In addition RNA will be isolated from from PBMCs and fractions of platelets, granulocytes and reticulocytes. The investigators will analyze the expression of transcripts to determine if alterations can explain the clinical observations.
Measure: Genetic and genomic predictors in SCD subjects Time: through study completion, approximately one year after subject participation