Protocol Number: 76-DK-0006

Title:

Studies of Molecular Genetics of Insulin Secretion, Insulin Action, and Diabetes Mellitus

Number:

76-DK-0006

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.

Sponsoring Institute:

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION/EXCLUSION CRITERIA

At least one of the following is required:

Hyperinsulinemia (i.e. greater than 30 microgramsU/mL).

Clinical presence of diabetes.

Phenotypic features suggesting a defect in glucose/lipid metabolism:

Acanthosis nigricans;

Lipoatrophy/lipodystrophy;

Lipomatosis;

Xanthomata;

Fatty liver.

Family members of patients with known disease states of insulin action.

Special Instructions:

This protocol is not currently recruiting healthy volunteers.

Keywords:

Insulin

Insulin Receptors

Recruitment Keywords:

None

Conditions:

Diabetes Mellitus

Insulin Resistance

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:

Mutations in the inslin receptor gene

Molecular mechanism of insulin resistance: lessons from patients with mutations in the insulin receptor gene

The syndromes of insulin resistance and acanthosis nigricans: insulin-receptor disorders in man

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
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Warren Grant Magnuson Clinical Center (CC)
National Institutes of Health (NIH)
Bethesda, Maryland 20892. Last update: 10/16/2004