RECRUITING

Genetic Studies of Insulin and Diabetes

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Conditions

Diabetes MellitusSevere Insulin ResistanceType B Insulin ResistanceNatural History

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Natural History of Disorders of Insulin Resistance

Quick Facts

Study Start:1976-02-01
Study Completion:N/A
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT00001987

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:6 Months to 120 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Patients with evidence for insulin resistance or a disorder associated with severe insulin resistance, including:
  2. * Patients with various syndromes of lipodystrophy
  3. * Patients with known or suspected mutations on the insulin receptor gene
  4. * Patients with known or suspected autoantibodies to the insulin receptor
  5. * Patients with other severe forms of insulin resistance
  6. * Family members of patients, above
  7. * Healthy control subjects without insulin resistance
  8. * Patients with evidence for severe insulin resistance or a disorder associated with severe insulin resistance must meet all of the following criteria:
  9. * Suspected severe insulin resistance, or a disorder associated with severe insulin resistance, as evidenced by one or more of the following:
  10. * Hyperinsulinemia (i.e. fasting insulin \>30microU/mL)
  11. * High insulin requirement (\> 2 units per kg per day or \> 200 units total per day)
  12. * Phenotypic features suggesting a defect in glucose/lipid metabolism:
  13. * Acanthosis nigricans
  14. * Lipodystrophy/abnormal fat distribution
  15. * Xanthomata
  16. * Fatty liver
  17. * Known or suspected mutations of the insulin receptor gene
  18. * Known or suspected autoantibodies to the insulin receptor
  19. * Age \>= 6 months
  20. * Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document.
  21. * Family members of patients, above (either affected or unaffected) must meet all of the following criteria:
  22. * Biological relatives of patients in category (1) in whom a genetic cause of insulin resistance is known or suspected.
  23. * Age \>= 6 months
  24. * Ability of subject (and/or legal guardian, for minor subjects) to understand and the willingness to sign a written informed assent/consent document.
  25. * Healthy control subjects Cohort 1 must meet all of the following criteria.
  26. * Ability of subject (and/or legal guardian, for minor subjects) to understand and the willingness to sign a written informed assent/consent document.
  27. * In good general health with no known active medical conditions as evidenced by medical history
  28. * Age \>= 12 years
  29. * Healthy control subjects Cohort 2. Subjects from Cohort 1 may be included in Cohort 2 if they meet the following ADDITIONAL inclusion criteria.
  30. * Fasting glucose \<100 mg/dL
  31. * HbA1c \<5.7%
  32. * Fasting triglycerides \<150 mg/dL
  33. * Fasting insulin \<30 mcU/mL
  34. * BMI \<27 kg/m\^2 or \<90th percentile for age/sex (whichever is lower)
  1. * Patients with evidence for insulin resistance or a disorder associated with severe insulin resistance
  2. * Family members of patients, above
  3. * Healthy control subjects Cohort 1
  4. * 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.
  5. * Recent (past 2 months) use of drugs or supplements that alter glucose or lipid metabolism (e.g. niacin, fish oil, red yeast rice)
  6. * History of diabetes or abnormal glucose tolerance
  7. * 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
  8. * Pregnant or lactating
  9. * 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.
  10. * Abnormal screening labs, including the following:
  11. * ALT or AST more than 1.5 times the upper limit of normal
  12. * Glycosuria
  13. * Clinically significant anemia
  14. * Low eGFR (\<60 mL/min/1.73m\^2)
  15. * 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

Contacts and Locations

Study Contact

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

Principal Investigator

Rebecca J Brown, M.D.
PRINCIPAL_INVESTIGATOR
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Study Locations (Sites)

National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
United States

Collaborators and Investigators

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

  • Rebecca J Brown, M.D., PRINCIPAL_INVESTIGATOR, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date1976-02-01
Study Completion DateN/A

Study Record Updates

Study Start Date1976-02-01
Study Completion DateN/A

Terms related to this study

Keywords Provided by Researchers

  • Diabetes Mellitus
  • Severe Insulin Resistance
  • Type B Insulin Resistance
  • Natural History

Additional Relevant MeSH Terms

  • Diabetes Mellitus
  • Severe Insulin Resistance