Glucose Metabolism in Sickle Cell Disease
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|ClinicalTrials.gov Identifier: NCT02922296|
Recruitment Status : Active, not recruiting
First Posted : October 4, 2016
Last Update Posted : September 2, 2020
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.
|Condition or disease|
|Sickle Cell Disease Diabetes Mellitus|
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.
|Study Type :||Observational|
|Estimated Enrollment :||75 participants|
|Official Title:||Glucose Metabolism in Sickle Cell Disease|
|Study Start Date :||May 1, 2015|
|Estimated Primary Completion Date :||May 1, 2022|
|Estimated Study Completion Date :||December 1, 2022|
- Metabolic status of adult SCD subjects [ Time Frame: 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)
- Genetic and genomic predictors in SCD subjects [ Time Frame: through study completion, approximately one year after subject participation ]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.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02922296
|United States, Illinois|
|University of Illinois at Chicago|
|Chicago, Illinois, United States, 60612|
|Principal Investigator:||Victor Gordeuk, MD||University of Illinois at Chicago|