Search / Trial NCT00001987

Genetic Studies of Insulin and Diabetes

Launched by NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES (NIDDK) · Jan 28, 2000

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Trial Information

Current as of December 26, 2024

Recruiting

Keywords

Diabetes Mellitus Severe Insulin Resistance Type B Insulin Resistance Natural History

ClinConnect Summary

This clinical trial is focused on understanding more about insulin and diabetes, particularly looking at why some people have severe insulin resistance. Insulin is a hormone that helps control blood sugar levels, and when it doesn't work properly, it can lead to diabetes. The researchers want to compare individuals with diabetes or insulin resistance to those who are healthy. They will be collecting blood samples and possibly skin samples to study how insulin interacts with cells in the body.

To participate in this study, individuals must meet specific criteria. People who have severe insulin resistance or related disorders, their family members, and healthy individuals without any insulin issues can all be included. Participants may need to provide a blood sample of around 4 to 6 ounces, and in some cases, they might be asked to fast for up to 72 hours before the tests. This study is currently looking for participants and aims to help researchers understand the genetic factors involved in insulin resistance and diabetes.

Gender

ALL

Eligibility criteria

  • * INCLUSION CRITERIA:
  • Three categories of subjects will be included in this study:
  • * Patients with evidence for insulin resistance or a disorder associated with severe insulin resistance, including:
  • • Patients with various syndromes of lipodystrophy
  • • Patients with known or suspected mutations on the insulin receptor gene
  • • Patients with known or suspected autoantibodies to the insulin receptor
  • • Patients with other severe forms of insulin resistance
  • • Family members of patients, above
  • • Healthy control subjects without insulin resistance
  • Inclusion criteria for each group of subjects are given below:
  • * Patients with evidence for severe insulin resistance or a disorder associated with severe insulin resistance must meet all of the following criteria:
  • * Suspected severe insulin resistance, or a disorder associated with severe insulin resistance, as evidenced by one or more of the following:
  • • Hyperinsulinemia (i.e. fasting insulin \>30microU/mL)
  • • High insulin requirement (\> 2 units per kg per day or \> 200 units total per day)
  • * Phenotypic features suggesting a defect in glucose/lipid metabolism:
  • • Acanthosis nigricans
  • • Lipodystrophy/abnormal fat distribution
  • • Xanthomata
  • • Fatty liver
  • • Known or suspected mutations of the insulin receptor gene
  • • Known or suspected autoantibodies to the insulin receptor
  • • Age \>= 6 months
  • • Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document.
  • * Family members of patients, above (either affected or unaffected) must meet all of the following criteria:
  • • Biological relatives of patients in category (1) in whom a genetic cause of insulin resistance is known or suspected.
  • • Age \>= 6 months
  • • Ability of subject (and/or legal guardian, for minor subjects) to understand and the willingness to sign a written informed assent/consent document.
  • • Healthy control subjects Cohort 1 must meet all of the following criteria.
  • • Ability of subject (and/or legal guardian, for minor subjects) to understand and the willingness to sign a written informed assent/consent document.
  • • In good general health with no known active medical conditions as evidenced by medical history
  • • Age \>= 12 years
  • • Healthy control subjects Cohort 2. Subjects from Cohort 1 may be included in Cohort 2 if they meet the following ADDITIONAL inclusion criteria.
  • • Fasting glucose \<100 mg/dL
  • • HbA1c \<5.7%
  • • Fasting triglycerides \<150 mg/dL
  • • Fasting insulin \<30 mcU/mL
  • • BMI \<27 kg/m\^2 or \<90th percentile for age/sex (whichever is lower)
  • EXCLUSION CRITERIA:
  • • Patients with evidence for insulin resistance or a disorder associated with severe insulin resistance
  • • --none
  • • Family members of patients, above
  • • --Pregnant at the time of enrollment
  • • Healthy control subjects Cohort 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.
  • • Recent (past 2 months) use of drugs or supplements that alter glucose or lipid metabolism (e.g. niacin, fish oil, red yeast rice)
  • • History of diabetes or abnormal glucose tolerance
  • • 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
  • • Pregnant or lactating
  • • Healthy control subjects Cohort 2. Subjects from Cohort 1 may NOT be included in Cohort 2 if they have any of the following ADDITIONAL exclusion criteria.
  • * 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

Trial Officials

Rebecca J Brown, M.D.

Principal Investigator

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

About National Institute Of Diabetes And Digestive And Kidney Diseases (Niddk)

The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) is a prominent research institution within the National Institutes of Health (NIH) dedicated to advancing scientific knowledge and promoting health in the areas of diabetes, endocrine and metabolic disorders, obesity, digestive diseases, and kidney diseases. Through rigorous clinical trials and innovative research initiatives, NIDDK aims to improve prevention, diagnosis, and treatment strategies, ultimately enhancing patient outcomes and quality of life. The institute fosters collaboration among researchers, healthcare professionals, and community stakeholders to drive impactful discoveries and translate findings into effective healthcare solutions.

Locations

Bethesda, Maryland, United States

Bethesda, Maryland, United States

People applied

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

Discussion 0

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