[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100054896":3},{"organization":4,"armGroups":7,"interventions":17,"overallOfficials":23,"centralContacts":28,"locations":37,"responsibleParty":52,"collaborators":10,"id":54,"slug":55,"hasResults":56,"nctId":57,"briefTitle":58,"officialTitle":59,"acronym":10,"eligibilityCriteria":60,"healthyVolunteers":61,"sex":62,"minAge":63,"maxAge":64,"enrollmentInfo":65,"targetDuration":10,"studyType":68,"phases":10,"briefSummary":69,"conditions":70,"keywords":73,"overallStatus":40,"whyStopped":10,"lastUpdateSubmitDate":76,"lastUpdatePostDateStruct":77,"startDateStruct":80,"completionDateStruct":10,"leadSponsor":82,"locationsCount":83},{"fullName":5,"class":6},"National Institutes of Health Clinical Center (CC)","NIH",[8,13],{"label":9,"type":10,"description":9,"interventionNames":11},"Healthy Volunteers",null,[12],"Device: HR-pQCT scan",{"label":14,"type":10,"description":15,"interventionNames":16},"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.",[12],[18],{"type":19,"name":20,"description":21,"armGroupLabels":22,"otherNames":10},"DEVICE","HR-pQCT scan","HR-pQCT is a non-invasive, low-dose three-dimensional imaging method used to evaluate volumetric bone mineral density and bone microarchitecture of peripheral skeletal sites, including distal radius and distal tibia. HR-pQCT has an ability to differentiate between cortical and trabecular bone compartments providing density and structure parameters.",[9,14],[24],{"name":25,"affiliation":26,"role":27},"Rebecca J Brown, M.D.","National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)","PRINCIPAL_INVESTIGATOR",[29,34],{"name":30,"role":31,"phone":32,"phoneExt":10,"email":33},"Megan S Startzell, R.N.","CONTACT","(301) 402-6371","megan.startzell@nih.gov",{"name":25,"role":31,"phone":35,"phoneExt":10,"email":36},"(301) 594-0609","brownrebecca@mail.nih.gov",[38],{"facility":39,"status":40,"city":41,"state":42,"zip":43,"country":44,"countryCode":45,"cosmosGeoPoint":46,"geoPoint":51,"contacts":10},"National Institutes of Health Clinical Center","RECRUITING","Bethesda","Maryland","20892","United States","US",{"type":47,"coordinates":48},"Point",[49,50],-77.10026,38.98067,{"lat":50,"lon":49},{"type":53,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100054896","genetic-studies-of-insulin-and-diabetes-100054896",false,"NCT00001987","Genetic Studies of Insulin and Diabetes","Natural History of Disorders of Insulin Resistance","* INCLUSION CRITERIA:\n\nThree categories of subjects will be included in this study:\n\n* Patients with evidence for insulin resistance or a disorder associated with severe insulin resistance, including:\n\n  * Patients with various syndromes of lipodystrophy\n  * Patients with known or suspected mutations on the insulin receptor gene\n  * Patients with known or suspected autoantibodies to the insulin receptor\n  * Patients with other severe forms of insulin resistance\n* Family members of patients, above\n* Healthy control subjects without insulin resistance\n\nInclusion criteria for each group of subjects are given below:\n\n* Patients with evidence for severe insulin resistance or a disorder associated with severe insulin resistance must meet all of the following criteria:\n\n  * Suspected severe insulin resistance, or a disorder associated with severe insulin resistance, as evidenced by one or more of the following:\n  * Hyperinsulinemia (i.e. fasting insulin \\>30microU\u002FmL)\n  * High insulin requirement (\\> 2 units per kg per day or \\> 200 units total per day)\n  * Phenotypic features suggesting a defect in glucose\u002Flipid metabolism:\n\n    * Acanthosis nigricans\n    * Lipodystrophy\u002Fabnormal fat distribution\n    * Xanthomata\n    * Fatty liver\n  * Known or suspected mutations of the insulin receptor gene\n  * Known or suspected autoantibodies to the insulin receptor\n  * Age \\>= 6 months\n  * Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document.\n* Family members of patients, above (either affected or unaffected) must meet all of the following criteria:\n\n  * Biological relatives of patients in category (1) in whom a genetic cause of insulin resistance is known or suspected.\n  * Age \\>= 6 months\n  * Ability of subject (and\u002For legal guardian, for minor subjects) to understand and the willingness to sign a written informed assent\u002Fconsent document.\n* Healthy control subjects Cohort 1 must meet all of the following criteria.\n\n  * Ability of subject (and\u002For legal guardian, for minor subjects) to understand and the willingness to sign a written informed assent\u002Fconsent document.\n  * In good general health with no known active medical conditions as evidenced by medical history\n  * Age \\>= 12 years\n* Healthy control subjects Cohort 2. Subjects from Cohort 1 may be included in Cohort 2 if they meet the following ADDITIONAL inclusion criteria.\n\n  * Fasting glucose \\\u003C100 mg\u002FdL\n  * HbA1c \\\u003C5.7%\n  * Fasting triglycerides \\\u003C150 mg\u002FdL\n  * Fasting insulin \\\u003C30 mcU\u002FmL\n  * BMI \\\u003C27 kg\u002Fm\\^2 or \\\u003C90th percentile for age\u002Fsex (whichever is lower)\n\nEXCLUSION CRITERIA:\n\n* Patients with evidence for insulin resistance or a disorder associated with severe insulin resistance\n\n  --none\n* Family members of patients, above\n\n  --Pregnant at the time of enrollment\n* Healthy control subjects Cohort 1\n\n  * 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.\n  * Recent (past 2 months) use of drugs or supplements that alter glucose or lipid metabolism (e.g. niacin, fish oil, red yeast rice)\n  * History of diabetes or abnormal glucose tolerance\n  * Psychiatric or cognitive disorder that will, in the opinion of the investigators, limit the subject's ability to provide informed consent\u002Fassent, or to comply with study procedures\n  * Pregnant or lactating\n* 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.\n\n  * Abnormal screening labs, including the following:\n\n    * ALT or AST more than 1.5 times the upper limit of normal\n    * Glycosuria\n    * Clinically significant anemia\n    * Low eGFR (\\\u003C60 mL\u002Fmin\u002F1.73m\\^2)\n    * 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",true,"ALL","6 Months","120 Years",{"count":66,"type":67},1200,"ESTIMATED","OBSERVATIONAL","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.\n\nResearchers 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....",[71,72],"Diabetes Mellitus","Severe Insulin Resistance",[71,72,74,75],"Type B Insulin Resistance","Natural History","2026-06-27",{"date":78,"type":79},"2026-06-30","ACTUAL",{"date":81,"type":79},"1976-02-01",{"name":26,"class":6},1]