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| Tracking Information | |||||||||
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| First Received Date ICMJE | February 20, 2003 | ||||||||
| Last Updated Date | August 24, 2009 | ||||||||
| Start Date ICMJE | February 2003 | ||||||||
| Estimated Primary Completion Date | October 2012 (final data collection date for primary outcome measure) | ||||||||
| Current Primary Outcome Measures ICMJE | |||||||||
| Original Primary Outcome Measures ICMJE | |||||||||
| Change History | Complete list of historical versions of study NCT00055172 on ClinicalTrials.gov Archive Site | ||||||||
| Current Secondary Outcome Measures ICMJE | |||||||||
| Original Secondary Outcome Measures ICMJE | |||||||||
| Descriptive Information | |||||||||
| Brief Title ICMJE | Genetic Basis of Immunodeficiency | ||||||||
| Official Title ICMJE | The Determination Of Genetic Basis Of Immunodeficiency | ||||||||
| Brief Summary | This study will examine the role of hereditary factors in different forms of severe combined immunodeficiency (SCID). Patients with immunodeficiencies may be eligible for this study. Candidates include:
Relatives of patients will also be studied. Participants will have blood samples collected for genetic analysis in studies related to SCID at the National Institutes of Health and other institutions. |
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| Detailed Description | The goal of this project is to identify the genetic basis of new forms of inherited immunodeficiency. The particular focus relates to cytokines such as IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21 that share the common cytokine receptor (Gamma) chain, (Gamma c), and to molecules that are important for signaling in response to these cytokines. |
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| Study Phase | |||||||||
| Study Type ICMJE | Observational | ||||||||
| Study Design ICMJE | |||||||||
| Condition ICMJE | Severe Combined Immunodeficiency | ||||||||
| Intervention ICMJE | |||||||||
| Study Arms / Comparison Groups | |||||||||
| Publications * |
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* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline. |
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| Recruitment Information | |||||||||
| Recruitment Status ICMJE | Recruiting | ||||||||
| Enrollment ICMJE | 0 | ||||||||
| Completion Date | |||||||||
| Estimated Primary Completion Date | October 2012 (final data collection date for primary outcome measure) | ||||||||
| Eligibility Criteria ICMJE |
Patients to be included are those with diminished numbers of T cells and/or NK cells or those who have normal T cell and NK cell numbers but diminished T cell, B cell, or NK cell function. Relatives of affected individuals may also be studied. EXCLUSION CRITERIA: Patients to be excluded are those with a known diagnosis or those who are related to an individual with an immunodeficiency of known cause. Other patients may be excluded based on the particular immunological phenotype or the inability of the laboratory to handle additional cases at a given time |
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| Gender | Both | ||||||||
| Ages | |||||||||
| Accepts Healthy Volunteers | No | ||||||||
| Contacts ICMJE |
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| Location Countries ICMJE | United States, Chile | ||||||||
| Administrative Information | |||||||||
| NCT ID ICMJE | NCT00055172 | ||||||||
| Responsible Party | |||||||||
| Study ID Numbers ICMJE | 030105, 03-H-0105 | ||||||||
| Study Sponsor ICMJE | National Heart, Lung, and Blood Institute (NHLBI) | ||||||||
| Collaborators ICMJE | |||||||||
| Investigators ICMJE | |||||||||
| Information Provided By | National Institutes of Health Clinical Center (CC) | ||||||||
| Verification Date | July 2009 | ||||||||
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ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP |
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