Genetic Basis of Primary Immunodeficiencies
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|ClinicalTrials.gov Identifier: NCT00001788|
Recruitment Status : Recruiting
First Posted : November 4, 1999
Last Update Posted : November 8, 2019
|First Submitted Date||November 3, 1999|
|First Posted Date||November 4, 1999|
|Last Update Posted Date||November 8, 2019|
|Actual Study Start Date||August 21, 2011|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures
|Original Primary Outcome Measures||Not Provided|
|Change History||Complete list of historical versions of study NCT00001788 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures||Not Provided|
|Original Secondary Outcome Measures||Not Provided|
|Current Other Pre-specified Outcome Measures||Not Provided|
|Original Other Pre-specified Outcome Measures||Not Provided|
|Brief Title||Genetic Basis of Primary Immunodeficiencies|
|Official Title||Molecular Basis of Primary Immunodeficiencies|
The purpose of this study is to evaluate patients with primary immunodeficiency disorders to identify patients with mutations of the genes for the following proteins: Jak3, STAT1, STAT4, interleukin-7, interleukin-7 receptor, interleukin-12 receptor subunits, and others.
Patients will undergo screening history, physical examination, and clinical laboratory evaluation at referring institutions and tissue samples, or cell lines will be sent to the NIH. We will establish cell lines if necessary, prepare DNA and RNA for molecular genetic analysis and study cytokine signal transduction in patient cell lines.
|Detailed Description||The purpose of this study is to evaluate patients with primary immunodeficiency disorders to identify patients with mutations of the genes for the following proteins: Jak3, STAT1, STAT4, interleukin-7, interleukin-7 receptor, interleukin-12 receptor subunits, and others. Patients will undergo screening history, physical examination, and clinical laboratory evaluation at referring institutions and tissue samples, or cell lines will be sent to the NIH. We will establish cell lines if necessary, prepare DNA and RNA for molecular genetic analysis and study cytokine signal transduction in patient cell lines.|
|Study Design||Observational Model: Cohort
Time Perspective: Retrospective
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Non-Probability Sample|
|Study Population||(1) Patients will be examined at the NIH where relevant samples will be collected for analysis.(2) Patients will be examined by outside physicians and relevant patient history and physical results and samples sent to the NIH for evaluation.(3) Patients samples may be sent to us from Duke University Medical Center, a tertiary center with extensive experience in diagnosis and treatment of primary immunodeficiencies.(4) In the future, patient samples may be sent from other tertiary care centers not identified at this time.(5) Family members of patients with primary immunodeficiencies, if they or their parents/guardians request, may be evaluated at the discretion of the investigators.|
|Condition||Immunologic Deficiency Syndrome|
patients with primary immunodeficiency disorders
|Publications *||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Study Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
Samples from patients with known or suspected primary immunodeficiencies, including those treated with stem cell transplants or gene correction therapy, and their families will be accepted worldwide primarily from tertiary care centers that treat patients with such immunodeficiencies.
Such patients will have documented evidence of either opportunistic infection, recurrent infection, or unusually severe responses to infectious agents that cause mild illness in unaffected individuals. In selected cases, at the discretion of the investigators, samples for testing will be obtained from consenting adult relatives of affected individuals.
Either patient-derived B cell lines or primary blood samples will be accepted although in some cases buccal swabs will also be accepted.
Blood samples may be obtained from unaffected children.
Additionally; patients with particularly interesting clinical presentations (e.g. adults with possible attenuated immunodeficiency) may be seen for outpatient visits at the NIH Clinical Center for evaluation.
Infants with SCID or other primary immunodeficiency will not be seen; their physicians will care them for and only clinical material will be sent on such patients.
Medically stable patients with mild to moderate immunodeficiency may be seen at the NIH.
We will encourage the participation of women and members of minority groups in this study.
Pregnant women will be allowed to participate with all protections afforded by OHSRP SOP 14B ( Research Involving Pregnant Women, Human Fetuses and Neonates ), although any subsections of the protocol that are deemed clinically contraindicated will not be performed. The same consideration will be applied to women who become pregnant after enrollment.
Inability to provide informed consent.
A presence of any medical condition that would, in the opinion of the investigators, confuse the interpretation of the study.
|Ages||Child, Adult, Older Adult|
|Accepts Healthy Volunteers||Yes|
|Listed Location Countries||United States|
|Removed Location Countries||Italy|
|Other Study ID Numbers||990004
|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 Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) )|
|Study Sponsor||National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)|
|PRS Account||National Institutes of Health Clinical Center (CC)|
|Verification Date||October 9, 2019|