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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:
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National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Recruitment Detail
- Type:
Participants currently recruited/enrolled
- 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:
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Insulin
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Insulin Receptors
- Recruitment Keyword(s):
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None
- Condition(s):
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Diabetes Mellitus
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Insulin Resistance
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Intervention(s):
- None
- Supporting Site:
- National Institute of Diabetes and Digestive and Kidney Diseases
- Contact(s):
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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
- Citation(s):
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Mutations in the inslin receptor gene
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Molecular mechanism of insulin resistance: lessons from patients with mutations in the insulin receptor gene
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The syndromes of insulin resistance and acanthosis nigricans: insulin-receptor disorders in man
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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 01/13/2009
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