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| Sponsored by: |
National Human Genome Research Institute (NHGRI) |
|---|---|
| Information provided by: | National Institutes of Health Clinical Center (CC) |
| ClinicalTrials.gov Identifier: | NCT00006319 |
Purpose
This study will try to identify mutations in the genes responsible for primary immunodeficiency disorders (inherited diseases of the immune system) and evaluate the course of these diseases in patients over time to learn more about the medical problems they cause. The immune system is composed of various cells (e.g., T and B cells and phagocytes) and other substances (complement system) that protect the body from infections and cancer. Abnormalities in the gene(s) responsible for the function of these components can lead to serious infections and other immune problems.
Patients with Wiskott-Aldrich syndrome, adenosine deaminase (ADA) deficiency, Janus Associated Kinase 3 (JAK3) deficiency, common variable immunodeficiency (CVID) and other immunodeficiencies may be eligible for this study. Participants will undergo a medical and family history, physical examination, and additional procedures and tests that may include the following:
Apheresis for collecting white blood cells to study cell function. In this procedure, whole blood is collected through a needle placed in an arm vein.
The blood circulates through a machine that separates it into its components. The white cells are then removed, and the red cells, platelets and plasma are returned to the body, either through the same needle or through a second needle placed in the other arm.
Information gained from this study may provide a better understanding of primary immunodeficiencies, leading to better diagnosis and treatment. In addition, study participants may receive medical and genetic counseling and may be found eligible for other NIH studies on these diseases.
| Condition |
|---|
|
Immunologic Deficiency Syndrome |
| Study Type: | Observational |
| Official Title: | Molecular and Clinical Studies of Primary Immunodeficiency Diseases |
| Estimated Enrollment: | 300 |
| Study Start Date: | September 2000 |
The purpose of this study is to study patients with primary immunodeficiency disorders with the goal of contributing to both the clinical and molecular understanding of this heterogeneous group of inherited diseases. Clinical issues to be addressed will include disease manifestations and evolution, as well prevention and management of medical problems. Patients with diseases of known molecular basis (including Wiskott-Aldrich syndrome, ADA deficiency, JAK3 deficiency and other syndromes) will be genotyped in order to investigate phenotype-genotype correlation. Patients with disease of unknown or incomplete genetic characterization (e.g. Common Variable Immune Deficiency, CVID) will be studied with hopes of contributing to the identification of specific genes responsible for disease. Studies of fresh cells, cell lines and tissue samples will be performed to help characterize the patient's syndrome as well as to test the efficacy of genetic correction when available.
The outcome we seek is to improve our knowledge of the molecular basis, clinical presentation and evolution of primary immunodeficiency diseases and to collaborate to maintain or improve the health status of our patients. It is anticipated that additional protocols will be generated from preliminary data gathered in this umbrella study.
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
Patients with a clinical history or signs and symptoms suggestive of a primary immune deficiency syndrome may be referred by their physician or self referred for inclusion in this study and they may be referred by their physician or self referred. If possible, a local physician/clinical immunologist will be identified for self-referred patients to serve as primary reference. If screening of the patients, either by phone interview or review of the medical records indicates that the patient may have a primary immunodeficiency syndrome and is HIV-negative, the patient will be invited to come to the NIH and sign an informed consent. If family history is positive for immunodeficiency, the patients or family members may be asked to invite other relatives to contact the PI to participate in the study.
EXCLUSION CRITERIA:
Inability of the subject or the subject's parent/guardian to provide informed consent.
Patients infected with the Human Immunodeficiency Virus before enrollment.
Contacts and Locations| Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
| Contact: TTY | 1-866-411-1010 |
| United States, Maryland | |
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
| Bethesda, Maryland, United States, 20892 | |
More Information
| Study ID Numbers: | 000209, 00-HG-0209 |
| Study First Received: | September 30, 2000 |
| Last Updated: | October 16, 2008 |
| ClinicalTrials.gov Identifier: | NCT00006319 History of Changes |
| Health Authority: | United States: Federal Government |
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X-Linked Agammagloblinemia Wiskott-Aldrich Syndrome Jak-3 SCID X-Linked SCID |
X-Linked Hyper-IgM Syndrome Primary Immunodeficiencies ADA-SCID CVID |
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Wiskott-Aldrich Syndrome Hyperkinesis Hyper-IgM Immunodeficiency Syndrome, Type 1 Hyper-IgM Immunodeficiency Syndrome |
Wiskott Aldrich Syndrome Hyper IgM Syndrome Immunologic Deficiency Syndromes |
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Pathologic Processes Disease Immune System Diseases Syndrome Immunologic Deficiency Syndromes |
