Molecular and Clinical Studies of Primary Immunodeficiency Diseases
|First Submitted Date||September 30, 2000|
|First Posted Date||October 2, 2000|
|Last Update Posted Date||October 19, 2017|
|Start Date||September 25, 2000|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures||Not Provided|
|Original Primary Outcome Measures||Not Provided|
|Change History||Complete list of historical versions of study NCT00006319 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures||Not Provided|
|Original Secondary Outcome Measures||Not Provided|
|Current Other Outcome Measures||Not Provided|
|Original Other Outcome Measures||Not Provided|
|Brief Title||Molecular and Clinical Studies of Primary Immunodeficiency Diseases|
|Official Title||Molecular and Clinical Studies of Primary Immunodeficiency Diseases|
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:
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.
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.
|Study Design||Not Provided|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Condition||Immunologic Deficiency Syndrome|
|Study Groups/Cohorts||Not Provided|
|Publications *||Sokolic R, Maric I, Kesserwan C, Garabedian E, Hanson IC, Dodds M, Buckley R, Issekutz AC, Kamani N, Shaw K, Tan B, Bali P, Hershfield MS, Kohn DB, Wayne AS, Candotti F. Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency. Blood. 2011 Sep 8;118(10):2688-94. doi: 10.1182/blood-2011-01-329359. Epub 2011 Jul 1. Erratum in: Blood. 2014 Mar 13;123(11):1767.|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status||Enrolling by invitation|
|Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
Patients with a clinical history or signs and symptoms suggestive of a primary immune deficiency syndrome and their family members are eligible 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 their 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.
Adult patient who are unable to provide informed consent are eligible to participate with permission obtained from their legal guardian or durable power of attorney.
Inability of the subject or the subject s parent/guardian to provide informed consent.
Patients infected with the Human Immunodeficiency Virus before enrollment.
|Ages||Child, Adult, Senior|
|Accepts Healthy Volunteers||No|
|Contacts||Contact information is only displayed when the study is recruiting subjects|
|Listed Location Countries||United States|
|Removed Location Countries|
|Other Study ID Numbers||000209
|Has Data Monitoring Committee||Not Provided|
|U.S. FDA-regulated Product||Not Provided|
|IPD Sharing Statement||Not Provided|
|Responsible Party||National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )|
|Study Sponsor||National Human Genome Research Institute (NHGRI)|
|PRS Account||National Institutes of Health Clinical Center (CC)|
|Verification Date||June 6, 2017|