Natural History of Disorders of Insulin Resistance
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Summary
The study will allow researchers to obtain blood, plasma, DNA, and RNA for genetic studies of insulin. There will be a focus on the causes of insulin resistance and diabetes mellitus. Insulin is a hormone found in the body that controls the level of sugar in the blood. Insulin resistance refers to conditions like diabetes when insulin does not work properly. In this study researchers would like to compare patients with diabetes and other forms of insulin resistance to normal individuals. The study will investigate how insulin attaches to cells. Researchers will take 4 to 6 ounces (100-150 ml) of blood from adult patients and may request up to 12 ounces (one unit) of blood if necessary. Skin samples may be taken for a biopsy if further genetic testing is necessary. In addition some patients may be asked not to eat for up to 72 hours prior to testing.
Description
Study Description: Insulin is the key hormone responsible for regulating the level of glucose in plasma. In several disease states (e.g., obesity, type 2 diabetes, and acromegaly), the target cells are resistant to insulin action. Insulin resistance leads to metabolic complications including diabetes, dyslipidemia, cardiovascular disease, non-alcoholic fatty liver disease, and reproductive dysfunction. The intramural research program of the NIDDK has a long history of studying patients with rare disorders of extreme insulin resistance. We use what is learned from these rare patients both to d…
Eligibility
- Age range
- 0–120 years
- Sex
- All
- Healthy volunteers
- Yes
* INCLUSION CRITERIA: Three categories of subjects will be included in this study: * Patients with evidence for insulin resistance or a disorder associated with severe insulin resistance, including: * Patients with various syndromes of lipodystrophy * Patients with known or suspected mutations on the insulin receptor gene * Patients with known or suspected autoantibodies to the insulin receptor * Patients with other severe forms of insulin resistance * Family members of patients, above * Healthy control subjects without insulin resistance Inclusion criteria for each group of subjec…
Interventions
- DeviceHR-pQCT scan
HR-pQCT is a non-invasive, low-dose three-dimensional imaging method used to evaluate volumetric bone mineral density and bone microarchitecture of peripheral skeletal sites, including distal radius and distal tibia. HR-pQCT has an ability to differentiate between cortical and trabecular bone compartments providing density and structure parameters.
Location
- National Institutes of Health Clinical CenterBethesda, Maryland