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Genetic Studies of Insulin and Diabetes

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ClinicalTrials.gov Identifier: NCT00001987
Recruitment Status : Recruiting
First Posted : January 31, 2000
Last Update Posted : February 5, 2021
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) )

Brief 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.


Condition or disease
Diabetes Mellitus Severe Insulin Resistance

Detailed 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 develop therapeutics for rare diseases, and to apply what is learned to understand more common forms of insulin resistance.

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Study Type : Observational
Estimated Enrollment : 1200 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Natural History of Disorders of Insulin Resistance
Actual Study Start Date : February 1, 1976

Resource links provided by the National Library of Medicine


Group/Cohort
Healthy Volunteers
Healthy Volunteers
Patients with severe insulin resistance
patients with severe insulin resistance manifesting with acanthosis nigricans, hyperinsulinemia, type A and B insulin resistance syndromes, and patients with lipodystrophy.



Primary Outcome Measures :
  1. Genetics of insulin resistance [ Time Frame: End of Study ]
    To discover the cause of the insulin resistance to better assist with treatment for it.

  2. Diabetes control [ Time Frame: every 6-12 months ]
    To help prevent additional health issues associated with poor glucose and insulin levels.



Information from the National Library of Medicine

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Ages Eligible for Study:   6 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Subjects with severe insulin resistance disorders.
Criteria
  • INCLUSION CRITERIA:

Three categories of subjects will be included in this study:

  1. Patients with evidence for insulin resistance or a disorder associated with severe insulin resistance, including:

    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
  2. Family members of patients, above
  3. Healthy control subjects without insulin resistance

Inclusion criteria for each group of subjects are given below:

  1. Patients with evidence for severe insulin resistance or a disorder associated with severe insulin resistance must meet all of the following criteria:

    a. Suspected severe insulin resistance, or a disorder associated with severe insulin resistance, as evidenced by one or more of the following:

    i. Hyperinsulinemia (i.e. fasting insulin >30microunits/mL)

    ii. High insulin requirement (> 2 units per kg per day or > 200 units total per day)

    iii. Phenotypic features suggesting a defect in glucose/lipid metabolism:

    • Acanthosis nigricans
    • Lipodystrophy/abnormal fat distribution
    • Xanthomata
    • Fatty liver

    iv. Known or suspected mutations of the insulin receptor gene

    v. Known or suspected autoantibodies to the insulin receptor

    b. Age >= 6 months

    c. Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document.

  2. Family members of patients, above (either affected or unaffected) must meet all of the following criteria

    1. Biological relatives of patients in category (1) in whom a genetic cause of insulin resistance is known or suspected.
    2. Age >= 6 months
    3. Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document.
  3. Healthy control subjects without insulin resistance must meet all of the following criteria

    1. In good general health with no known active medical conditions as evidenced by medical history
    2. Age >= 12 years
    3. Fasting glucose <100 mg/dL
    4. HbA1c <5.7%
    5. Fasting triglycerides <150 mg/dL
    6. Fasting insulin <20 mcU/mL
    7. BMI <27 kg/m^2 or <90th %ile for age/sex (whichever is lower)
    8. Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document.

EXCLUSION CRITERIA:

  1. Patients with evidence for insulin resistance or a disorder associated with severe insulin resistance

    a. none

  2. Family members of patients, above

    a. Pregnant or lactating at the time of enrollment

  3. Healthy control subjects without insulin resistance

    1. Current use of prescription or non-prescription medication. Certain exceptions are permitted, including topical medications, vitamins, and hormonal contraceptives. Other medications may be permitted at the discretion of the investigators.
    2. Recent (past 2 months) use of drugs or supplements that alter glucose or lipid metabolism (e.g. niacin, fish oil, red yeast rice)
    3. History of diabetes or abnormal glucose tolerance
    4. Psychiatric or cognitive disorder that will, in the opinion of the investigators, limit the subject's ability to provide informed consent/assent, or to comply with study procedures
    5. Pregnant or lactating
    6. Abnormal screening labs, including the following:

      • ALT or AST more than 1.5 times the upper limit of normal
      • Glycosuria
      • Clinically significant anemia
      • Low eGFR (<60 mL/min/1.73m^2)
      • Any other abnormality that, in the opinion of the investigator, will increase risk to the subject from participation, or interfere with interpretation of study data

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001987


Contacts
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Contact: Megan S Startzell, R.N. (301) 402-6371 megan.startzell@nih.gov
Contact: Rebecca J Brown, M.D. (301) 594-0609 brownrebecca@mail.nih.gov

Locations
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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 Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010    prpl@cc.nih.gov   
Sponsors and Collaborators
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Investigators
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Principal Investigator: Rebecca J Brown, M.D. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Additional Information:
Publications:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
ClinicalTrials.gov Identifier: NCT00001987    
Other Study ID Numbers: 760006
76-DK-0006
First Posted: January 31, 2000    Key Record Dates
Last Update Posted: February 5, 2021
Last Verified: February 1, 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) ):
Diabetes Mellitus
Severe Insulin Resistance
Type B Insulin Resistance
Additional relevant MeSH terms:
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Diabetes Mellitus
Insulin Resistance
Glucose Metabolism Disorders
Metabolic Diseases
Endocrine System Diseases
Hyperinsulinism