Clinical Trial: Molecular and Clinical Studies of Primary Immunodeficiency Diseases
Study Status: Enrolling by invitation
Recruit Status: Enrolling by invitation
Study Type: Observational
Official Title: Molecular and Clinical Studies of Primary Immunodeficiency Diseases
Brief Summary:
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:
- Blood tests for: routine laboratory studies (i.e. cell counts, enzyme levels, electrolytes, etc.); HIV testing; immune response to various substances; genetic testing; and establishment of cell lines to maintain a supply of cells for continued study
- Urine and saliva tests for biochemical studies
- Skin tests to assess response to antigens such as the viruses and bacteria responsible for tetanus, candida, tuberculosis, diphtheria, chicken pox, and other diseases.
- Skin and lymph node biopsies for tissue and DNA studies
- Chest X-ray, CT scans, or both to look for cancer or various infections.
- Pulmonary function test to assess lung capacity and a breath test to test for H. pylori infection.
Detailed Summary:
The purpose of this protocol 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 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. No investigational clinical interventions are planned under this protocol. It is anticipated that additional protocols will be generated from preliminary data gathered in this umbrella study.
Sponsor: National Human Genome Research Institute (NHGRI)
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Information By: National Institutes of Health Clinical Center (CC)
Dates:
Date Received: September 30, 2000
Date Started: September 24, 2000
Date Completion:
Last Updated: April 20, 2017
Last Verified: February 9, 2017
