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Genetic Studies of Insulin and Diabetes

This study is currently recruiting participants. (see Contacts and Locations)
Verified April 5, 2017 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: April 21, 2017
Last verified: April 5, 2017

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
Severe Insulin Resistance

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Natural History of Disorders of Insulin Resistance

Resource links provided by NLM:

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

Primary Outcome Measures:
  • Genetics of insulin resistance [ Time Frame: one time test ]
  • Diabetes control [ Time Frame: 6-24 months ]

Estimated Enrollment: 99999999
Study Start Date: January 30, 1976
Detailed Description:

Insulin is the key hormone responsible for regulating the level of glucose in plasma. In several disease states (e.g., obesity, non-insulin-dependent diabetes mellitus, and acromegaly), the target cells are resistant to insulin action. 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 develop therapeutics for rare diseases, and to apply what is learned to understand more common forms of insulin resistance.

The purpose of this protocol is to threefold:

  1. To study the molecular genetics underlying various causes of insulin resistance and diabetes mellitus.
  2. To understand the natural history of insulin resistance disorders, including their response to FDA approved therapies. However, the treatment aspect of the protocol represents clinical care rather than prospective research.
  3. To educate fellows in the Inter-institute Endocrinology and Pediatric Endocrinology programs of the NIH about rare and common insulin resistant disorders.

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 lipodystrophy
  2. Patients with known or suspected mutations on the insulin receptor gene
  3. Patients with known or suspected autoantibodies to the insulin receptor
  4. Patients with other severe forms of insulin resistance

The frequency of visits and testing to be performed will vary due to the clinical heterogeneity of the patients studied as well as their worldwide geographic distribution, and will be adjusted on an individual basis. The total quantity of blood collected will be adjusted to remain within the approved NIH guidelines appropriate to the individual s age and size. The testing will include all or some of the following studies:

  • Fasting blood sampling (e.g. insulin, glucose, HbA1c, lipid profile, lipoprotein profile, IGF-1 level, leptin level)
  • Urine pregnancy test for applicable patients
  • adrenal hormones and growth hormone
  • Oral glucose tolerance test
  • Stable isotope tracer studies to measure glucose and lipid turnover
  • Hyperinsulinemic-euglycemic clamp studies to measure insulin sensitivity
  • Analysis of body composition (anthropometric measurements, DEXA, MRI)
  • Measurement of autoantibodies to the insulin receptor if Type B insulin resistance is suspected
  • Biopsy of skin for the establishment of fibroblast or induced pluripotential stem cell lines
  • Biopsies of subcutaneous adipose tissue and/or muscle for gene expression profiling
  • Biopsies of liver or kidney if clinically indicated in patients with lipodystrophy

Ages Eligible for Study:   6 Months and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

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
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Principal Investigator: Phillip Gorden, M.D. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
  More Information

Additional Information:
Responsible Party: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Identifier: NCT00001987     History of Changes
Other Study ID Numbers: 760006
Study First Received: January 28, 2000
Last Updated: April 21, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
Diabetes Mellitus
Severe Insulin Resistance
Type B Insulin Resistance

Additional relevant MeSH terms:
Diabetes Mellitus
Insulin Resistance
Glucose Metabolism Disorders
Metabolic Diseases
Endocrine System Diseases
Insulin, Globin Zinc
Hypoglycemic Agents
Physiological Effects of Drugs processed this record on May 22, 2017