Genetic Studies of Insulin and Diabetes

This observational study aims to understand insulin resistance, a condition where the body's insulin (a hormone that controls blood sugar) doesn't work properly, leading to conditions like diabetes. Researchers will collect blood and potentially skin samples to study the genetics of insulin and how it attaches to cells. They want to compare people with diabetes and severe insulin resistance to healthy individuals. The study will also explore how insulin resistance relates to other health issues like heart disease. Success will be measured by understanding diabetes control, the genetics of insulin resistance, and its connection to cardiovascular disease. The study is open to people aged 6 months to 120 years who have evidence of insulin resistance, including those with lipodystrophy syndromes or suspected mutations in the insulin receptor gene. The current recruitment status is unclear.

Study design: This is an observational study with a planned enrollment of 1200 participants. It is not specified if there are different phases or if it's randomized.
What's involved: You would provide 4 to 6 ounces (100-150 ml) of blood, and potentially up to 12 ounces (one unit) if needed. Skin samples for a biopsy might also be requested for further genetic testing.
Compensation: Not stated in the trial record.
Follow-up: Your diabetes control will be measured every 6-12 months. Genetic studies of insulin resistance and its relationship to cardiovascular disease will be assessed at the end of the study.

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Genetic Studies of Insulin and Diabetes

Recruiting

Not specifiedAges 6+Observational

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

~1,200 participants

Updated 2026-08-24 on ClinicalTrials.gov

What's tested:HR-pQCT scan

At a glance

Recruiting sites

1 of 1 listed site is recruiting right now

RecruitingSuspended, closed, or not yet open

What they're measuring

Diabetes control

Measured over every 6-12 months

+3 more outcomes measured

Conditions

Diabetes Mellitus

Severe Insulin Resistance

Where it's being run

1 sites across 1 states

Maryland1

Study leadership

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

Who to contact

Megan S Startzell, R.N.

[email protected]

(301) 402-6371

Email the study team

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Eligibility criteria

Inclusion

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

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

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

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

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

What this trial measures

Diabetes controlevery 6-12 months
To help prevent additional health issues associated with poor glucose and insulin levels.
Genetics of insulin resistanceEnd of Study
To discover the cause of the insulin resistance to better assist with treatment for it.
Pathophysiology of insulin resistance and its relationship to cardiovascular disease.End of study
To understand the pathophysiology of insulin resistance and its relationship to cardiovascular disease.
Obtain tissue samples for ex vivo studies.End of study
To understand physiology and pathophysiology of insulin resistance and develop possible treatments.

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