Genetic Influence on Susceptibility to Type 1 Diabetes Mellitus

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00001985
Recruitment Status : Completed
First Posted : January 27, 2000
Last Update Posted : March 5, 2008
Information provided by:
National Institutes of Health Clinical Center (CC)

Brief Summary:

Type 1 diabetes mellitus is an autoimmune disease in which the body's immune cells attack the insulin-producing cells of the pancreas. Several environmental and genetic factors may predispose individuals to developing this disease, including changes in a gene called CD152. This study will examine how this gene may influence the development of insulin-dependent diabetes.

Patients with Type 1 diabetes mellitus enrolled in clinical trials at the National Institutes of Health and at the University of Florida and healthy normal volunteers may participate in this study. Participants will have up to three blood samples drawn over a period of less than 1 year. The first sample (about 20 milliliters, or 4 teaspoons), will be examined for changes in the structure of the CD152 gene. If the CD152 structure is different from that normally seen in the general population, a second sample (about 90 ml, or 6 tablespoons of blood) will be drawn. This sample will be used to study the function of specialized immune system cells (T cells), including their growth and survival, chemicals they produce when stimulated, and other factors. If these cells function differently from what is generally seen in the population, a third sample (90 ml) will be drawn for more detailed studies.

This investigation may help explain what makes certain individuals susceptible to Type 1 diabetes mellitus and may contribute to the development of improved treatments for the disease.

Condition or disease
Diabetes Mellitus Healthy

Detailed Description:
Genetic variations in CD152 have been reported to confer susceptibility to the development of type-1-diabetes mellitus (T1DM). In this protocol we will draw blood samples from patients and normal control volunteers in order to analyze for the presence of CD152 genetic variations and to determine whether those variations are associated with measurable abnormalities in T cell function. Subjects with T1DM and homozygous CD152 gene polymorphisms, patients with T1DM but without CD152 polymorphisms, and control subjects with or without CD152 polymorphisms will be studied to determine whether the CD152 polymorphisms have measurable effects on T cell function and signaling. We will assess T cell function by measuring: proliferation, viability, apoptosis, cytokine production and T cell signal transduction. The identification and characterization of genes that are linked to T1DM may provide an explanation into the mechanisms by which individuals are predisposed to T1DM.

Study Type : Observational
Official Title: Multi-Center Study to Determine Whether CD 152 Gene Polymorphisms Associated With Susceptibility to Type-1-Diabetes Mellitus (T1DM) Correspond With Abnormalities in T Cell Function
Study Start Date : January 2000
Study Completion Date : February 2003

Resource links provided by the National Library of Medicine

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Patients must have a willingness and legal ability to give consent, or permission.

Candidates with T1DM or Healthy Volunteers will be eligible.

Patients must be equal to or greater than 18 years of age.

Patients must not have an active malignancy.

Patients with a hemoglobin count of less than 9.0 mg/dl will be excluded. Patients may be on erythropoietin therapy, but will not be placed on therapy solely to facilitate research sample acquisition.

Patients must not have a known immunodeficiency syndrome.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00001985

United States, Maryland
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Publications: Identifier: NCT00001985     History of Changes
Other Study ID Numbers: 000063
First Posted: January 27, 2000    Key Record Dates
Last Update Posted: March 5, 2008
Last Verified: February 2003

Keywords provided by National Institutes of Health Clinical Center (CC):

Additional relevant MeSH terms:
Diabetes Mellitus
Diabetes Mellitus, Type 1
Disease Susceptibility
Glucose Metabolism Disorders
Metabolic Diseases
Endocrine System Diseases
Autoimmune Diseases
Immune System Diseases
Disease Attributes
Pathologic Processes