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NCT00001788 · ClinicalTrials.gov registry record
Genetic Basis of Primary Immunodeficiencies
A clinical trial, sponsored by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS).
- Terminated
- Registry status
- 119
- Enrollment target
NCT00001788: Clinical Trial study, sponsored by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS).
NCT00001788 is a clinical trial that was terminated before completion, run by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). The registered enrollment target is 119 participants. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT00001788 was terminated before completion, sponsored by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS).
- TERMINATED
- Registry status
- 119 participants
- Enrollment target
Study Summary
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.
Primary Outcome
The objectives of the study are: (1) To identify new patients with Jak3 deficiency to determine the range of mutations that occur, to study these mutations in in vitro assays and to relate these findings to the clinical presentation. We will also try to develop improved assays for the diagnosis of Jak3 deficiency. (2) To analyze the function of lymphoid and myeloid cells from patients who have undergone stem cell transplants for Jak3- and XSCID (3) To analyze patients with TB+SCID without mutati
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 119 participants |
| Start Date | 2011-08-21 |
| Est. Completion | 2020-07-16 |
Sponsor
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)93 total trials
Why NCT00001788 stopped before completion
NCT00001788 is an observational study that tracks outcomes without assigning an intervention. The registered 119 participants enrollment target is mid-sized for trials with a published cap.
The record links to 0 conditions, and to 0 interventions.
NCT00001788 does not publish any study locations in the registry export this page uses.
Frequently Asked Questions
What is clinical trial NCT00001788 about?
NCT00001788 is a clinical study titled "Genetic 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 scree...
What is the current status of trial NCT00001788?
This trial is currently terminated. The enrollment target is 119 participants. The study started on 2011-08-21. Estimated completion is 2020-07-16.
Who is sponsoring clinical trial NCT00001788?
This trial is sponsored by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), which has 93 total clinical trials registered on ClinicalTrials.gov.
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