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Genetic Studies of Insulin and Diabetes

This study is currently recruiting participants. (see Contacts and Locations)
Verified January 2014 by National Institutes of Health Clinical Center (CC)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) ) Identifier:
First received: January 28, 2000
Last updated: November 11, 2014
Last verified: January 2014

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.

Diabetes Mellitus
Insulin Resistance

Study Type: Observational
Official Title: Studies of Molecular Genetics of Insulin Secretion, Insulin Action, and Diabetes Mellitus

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 99999999
Study Start Date: January 1976
Detailed Description:

The purpose of this protocol is to enable us to obtain adequate blood or tissue samples to study the molecular mechanisms underlying various causes of insulin resistance and diabetes mellitus. Patients with evidence for insulin resistance will be eligible to participate in this study. We particularly focus our study on the following four groups of patients:

  1. Patients with various syndromes of lipoatrophy, lipodystrophy
  2. Patients with mutations on the insulin receptor gene
  3. Patients with autoantibodies to the insulin receptor
  4. Patients with severe forms of insulin resistance

In addition, patients displaying unusual phenotypic features (i.e. presence of acanthosis nigricans) in association with hyperinsulinemia (i.e. fasting insulin levels greater than 30 microU/ml) or clinical diabetes mellitus may be eligible to be studied at NIH.

The work-up will include all or some of the following studies:

Routine biochemical profile

Fasting insulin, glucose, HbA1c, lipid profile, lipoprotein profile, IGF-1 level, leptin level

A panel of hormone levels: thyroid and sex hormones, pituitary hormones, adrenal hormones and growth hormone

Blood samples for genetic studies

Oral glucose tolerance test

In vitro insulin or IGF-1 binding

Autoantibodies to the insulin receptor if Type B insulin resistance is suspected

The total quantity of blood collected is within the approved NIH guidelines appropriate to the individual s age and size. In addition, some subjects may undergo skin biopsy for the establishment of fibroblast cell lines. Some adult patients with lipoatrophy and lipodystrophy may be asked to undergo a muscle biopsy to broaden the molecular studies. Liver biopsies may be performed if clinically indicated in patients with lipoatrophy and lipodystrophy. DEXA analyses and anthropometric measurements are performed when medically indicated during the diagnosis and evaluation to correlate markers of insulin resistance with parameters of whole body composition.

In a novel component of the study, we aim to study the biochemical and molecular changes that occur with standard therapies (such as high dose insulin, continuous insulin therapy, metformin, and TZD s) used for the treatment of insulin resistance and diabetes.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

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;




Fatty liver

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

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00001987

Contact: Elaine K Cochran, C.R.N.P. (301) 496-2718
Contact: Phillip Gorden, M.D. (301) 402-7340

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
Principal Investigator: Phillip Gorden, M.D. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
  More Information

Additional Information:
Responsible Party: National Institutes of Health Clinical Center (CC) ( National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) ) Identifier: NCT00001987     History of Changes
Other Study ID Numbers: 760006, 76-DK-0006
Study First Received: January 28, 2000
Last Updated: November 11, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Insulin Receptors

Additional relevant MeSH terms:
Diabetes Mellitus
Insulin Resistance
Endocrine System Diseases
Glucose Metabolism Disorders
Metabolic Diseases
Hypoglycemic Agents
Pharmacologic Actions
Physiological Effects of Drugs processed this record on November 20, 2014