Glucose Metabolism in Sickle Cell Disease
Raktažodžiai
Santrauka
apibūdinimas
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.
Datos
Paskutinį kartą patikrinta: | 09/30/2019 |
Pirmasis pateikimas: | 07/30/2016 |
Numatytas registravimas pateiktas: | 09/28/2016 |
Pirmas paskelbtas: | 10/03/2016 |
Paskutinis atnaujinimas pateiktas: | 10/22/2019 |
Paskutinis atnaujinimas paskelbtas: | 10/24/2019 |
Faktinė studijų pradžios data: | 04/30/2015 |
Numatoma pirminio užbaigimo data: | 04/30/2020 |
Numatoma studijų užbaigimo data: | 11/30/2020 |
Būklė ar liga
Fazė
Tinkamumo kriterijai
Amžius, tinkami studijuoti | 18 Years Į 18 Years |
Tinkamos studijoms lytys | All |
Mėginių ėmimo metodas | Non-Probability Sample |
Priima sveikus savanorius | Taip |
Kriterijai | 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 |
Rezultatas
Pirminės rezultatų priemonės
1. Metabolic status of adult SCD subjects [through study completion, approximately one year after subject participation]
Antrinės rezultatų priemonės
1. Genetic and genomic predictors in SCD subjects [through study completion, approximately one year after subject participation]