Actively Recruiting

Age: 6Months - 120Years
All Genders
Healthy Volunteers
NCT00001987

Genetic Studies of Insulin and Diabetes

Led by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) · Updated on 2026-05-12

1200

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

Genetic Studies of Insulin and Diabetes

Who Can Participate

Age: 6Months - 120Years
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Patients with evidence of insulin resistance or severe insulin resistance disorders, including lipodystrophy, insulin receptor gene mutations, or autoantibodies to the insulin receptor
  • Family members of patients with known or suspected genetic causes of insulin resistance
  • Healthy control subjects without insulin resistance, aged 12 years or older
  • Patients with suspected severe insulin resistance showing hyperinsulinemia, high insulin requirement, or phenotypic features like acanthosis nigricans, lipodystrophy, xanthomata, or fatty liver
  • Ability to understand and willingness to sign informed consent or assent documents
  • Age 6 months or older
Not Eligible

You will not qualify if you...

  • Pregnant individuals among family members of patients
  • Healthy control subjects currently using prescription or non-prescription medications except topical treatments, vitamins, and hormonal contraceptives
  • Recent use (past 2 months) of drugs or supplements that affect glucose or lipid metabolism
  • History of diabetes or abnormal glucose tolerance in healthy controls
  • Psychiatric or cognitive disorders limiting consent ability or study compliance
  • Pregnant or lactating healthy control subjects
  • Healthy controls with abnormal screening labs such as elevated liver enzymes, glycosuria, significant anemia, low kidney function, or other abnormalities increasing risk or affecting data interpretation

AI-Screening

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Trial Site Locations

Total: 1 location

1

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Actively Recruiting

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Research Team

M

Megan S Startzell, R.N.

CONTACT

R

Rebecca J Brown, M.D.

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

2

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