播散性或难治性球孢子菌病的发病机制和遗传学
Background:
- Coccidioidomycosis is caused by a fungus that grows in the southwest United States and parts of Mexico and South America. This disease is caused by breathing dust containing the fungus. It can lead to serious lung and breathing problems. Rarely, the fungus can infect other body parts. This is called disseminated coccidioidomycosis (DCM). If the fungus stays in the lungs for more than 6 months, it is called refractory coccidioidomycosis (RCM). People with DCM or RCM may have difficulty fighting off infection because of immune system problems. Researchers want to study the immune systems of people with DCM or RCM, to learn more about the disease and the best ways to treat it. They also want to learn more about the types of people that get DCM or RCM and about the fungus that causes it.
Objectives:
- To learn more about DCM and RCM, the fungus that causes these diseases, and the people who get them.
Eligibility:
- People over age 2 with DCM or RCM.
Design:
- Participants will be screened with a review of their medical records.
- At the initial visit, participants will have:
- Medical history and physical exam
- Blood and urine tests. Some blood may be used for genetic testing. The samples will not include participants names. Participants will be notified only if the tests show something urgent about their DCM/RCM. Researchers think this sort of problem will be rare.
- Questionnaire about their DCM/RCM
- Sputum (mucus) collection. They will spit into a cup.
- Participants will have 1 follow-up visit per year. They will have blood tests. They may have other procedures to treat their DCM/RCM.
研究概览
地位
条件
详细说明
Coccidioidomycosis (CM) is a fungal disease endemic to the southwestern United States, Northern Mexico, and parts of South America. About 150,000 CM infections are estimated to occur in the United States each year, of which 60% are thought to be asymptomatic. Symptomatic patients typically present with a respiratory syndrome likened to community-acquired pneumonia, while less than 1% of infected individuals are thought to develop refractory disease with or without dissemination. Disseminated infection rarely resolves spontaneously and, although any organ can be affected, tends to involve the skin, lymph nodes, central nervous system and/or the skeletal system. While the risk of disseminated infection is increased in immune suppressed patients, many individuals with no significant prior history have developed debilitating, widespread infection. Causes of refractory and/or disseminated disease in previously healthy individuals have only recently begun to be elucidated, including mutations in the IFNy/IL-12 pathway.
We seek to better characterize the genetic predisposition and treatment of refractory
and/or disseminated coccidioidomycosis. Specifically, we will examine multiple immune factors, characterize the demographics of patients afflicted with this disease, and examine the phylogeny of the infecting organisms. This information will reveal endogenous pathways that might be targets for therapeutic intervention.
研究类型
注册 (估计的)
联系人和位置
学习联系方式
- 姓名：Steven M Holland, M.D.
- 电话号码：(301) 402-7684
- 邮箱：sholland@mail.nih.gov
研究联系人备份
- 姓名：Dawn E Shaw, R.N.
- 电话号码：(301) 401-4740
- 邮箱：dawn.shaw2@nih.gov
学习地点
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Maryland
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Bethesda、Maryland、美国、20892
- 招聘中
- National Institutes of Health Clinical Center
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接触：
- For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
- 电话号码：TTY dial 711 800-411-1222
- 邮箱：ccopr@nih.gov
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-
参与标准
资格标准
适合学习的年龄
接受健康志愿者
有资格学习的性别
取样方法
研究人群
Patients with confirmed refractory and/or disseminated coccidioidomycosis.
描述
- INCLUSION CRITERIA:
To be eligible for this study, potential participants must meet the following criteria:
-
Age >= 2 years old.
a. Enrollment of pediatric patients who are acutely ill or likely to become acutely ill will be deferred until a time when they are considered medically stable by the PI.
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Have a positive Coccidioides antigen load or culture proven (a) refractory pulmonary coccidioidomycosis or (b) disseminated coccidioidomycosis.
- Refractory pulmonary coccidioidomycosis must have occurred for at least 6 months and includes progressive pulmonary involvement without significant pulmonary cavitation.
- Disseminated CM is coccidioidomycosis infection in one or more regions outside of the chest.
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Agree to undergo genetic testing.
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Allow their samples to be stored for future research.
EXCLUSION CRITERIA:
- HIV infection
- Currently taking more than 20 mg/day of prednisone or undergoing active immunosuppressive therapy in the opinion of the investigator
- Any medical, psychiatric, social condition, occupational reason or other responsibility that, in the judgment of the investigator, is a contraindication to protocol participation or impairs a volunteer s ability to give informed consent.
学习计划
研究是如何设计的？
设计细节
- 观测模型：COHORT
- 时间观点：CROSS_SECTIONAL
队列和干预
团体/队列 |
|---|
|
Patients
Patients with confirmed refractory and/or disseminated coccidioidomycosis. |
研究衡量的是什么？
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
|
Study patients with refractory and/or disseminated coccidioidomycosis in order to identify known and novel immune defects, characterize the demographics of patients afflicted with this disease, follow disease progression in patients, and charact...
大体时间：Ongoing
|
Collecting information on coccidioidomycosis. |
Ongoing
|
合作者和调查者
调查人员
- 首席研究员：Steven M Holland, M.D.、National Institute of Allergy and Infectious Diseases (NIAID)
出版物和有用的链接
研究记录日期
研究主要日期
学习开始 (实际的)
初级完成 (估计的)
研究完成 (估计的)
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (估计的)
研究记录更新
最后更新发布 (实际的)
上次提交的符合 QC 标准的更新
最后验证
更多信息
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