Glucose Metabolism in Sickle Cell Disease
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 75
- 试验地点
- 1
- 主要终点
- Metabolic status of adult SCD subjects
研究概览
简要总结
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.
详细描述
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. Past studies suggested a low prevalence of diabetes in patients with SCD.10 Improvements in treatment and care have increased the life span of patients. This, along with the wide availability of high calorie diets and increasing adiposity in SCD raises that possibility that the prevalence of diabetes is increasing in SCD. Our study is designed to characterize the changes in metabolism that occur in sickle cell disease and to identify clinical, genetic and genomic risk factors for the development of diabetes. Our hypothesis is that non-overweight subjects with SCD have relative protection from diabetes and metabolic syndrome, but that those individuals who do become overweight have a dramatic increase in the rates of diabetes and metabolic syndrome. Lean SCD subjects will not have simply a neutral, but an overtly anti-diabetic phenotype (e.g. better glucose tolerance and lower metabolic syndrome markers). The two main study aims are as follows; Aim 1. Define the metabolic status of adult SCD subjects according to normal or increased BMI.
Aim 2. Determine genetic and genomic predictors of overweight, metabolic syndrome and diabetes in SCD subjects.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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)
排除标准
- •Patients receiving insulin therapy
- •Acute inflammatory or infectious illness or injury
结局指标
主要结局
Metabolic status of adult SCD subjects
时间窗: through study completion, approximately one year after subject participation
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)
次要结局
- Genetic and genomic predictors in SCD subjects(through study completion, approximately one year after subject participation)
研究者
Victor Gordeuk
Director Sickle Cell Center
University of Illinois at Chicago