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Protocol Number:
01-H-0198
- Title:
Clinical Course in Cystic Fibrosis: The Effects of Pseudomonas Aeruginosa and Potential Modifier Genes
- Number:
01-H-0198
- Summary:
This study will examine 1) the role of hereditary factors in cystic fibrosis; i.e., the relationship of the disease to specific gene variations, and 2) the role of bacterial products involved in lung infections-substances produced by bacteria may worsen the disease.
Patients with cystic fibrosis who are being followed by the Medical College of Wisconsin or the University of Wisconsin-Madison are eligible for this study. Participants will have blood tests, pulmonary function tests, a sputum culture, and buccal swabbing (cotton swabbing of the inside of the cheek to collect cells for DNA study). In addition, their medical records will be reviewed for a history of lung infections and the results of various tests, including pulmonary function studies, chest X-rays and bacterial cultures. Blood samples collected previously at the Medical College of Wisconsin or the University of Wisconsin-Madison will also be analyzed for antibodies to bacteria.
Although this is a one-time study, participants may be asked to return for repeated tests.
- Sponsoring Institute:
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National Heart, Lung and Blood Institute (NHLBI)
- Recruitment Detail
- Type:
Participants currently recruited/enrolled
- Gender:
Male & Female
- Referral Letter Required:
Yes
- Population Exclusion(s):
None
- Eligibility Criteria:
INCLUSION CRITERIA:
Patients with cystic fibrosis who have a defined mutation in CFTR (e.g., any of the known variants of the CFTR gene, such as the delta F508 allele) born in the state of Wisconsin since 1985 or otherwise followed by the cystic fibrosis centers at the Medical College of Wisconsin or University of Wisconsin-Madison.
Patients will have been tested or will be tested for the CFTR gene under another protocol (96-H-0100).
Patients may be colonized with P. aeruginosa or other organisms (e.g., Burkholderia cepacia).
The age range of NIH participants in this study is from 9 to 80 years old.
EXCLUSION CRITERIA:
There are no exclusion criteria.
- Special Instructions:
Currently Not Provided
- Keywords:
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Type III Secretion Pathways
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Exotoxin A Polymorphisms
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Cystic Fibrosis and Pseudomonas aeruginosa
- Recruitment Keyword(s):
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Adenosine Deaminase Deficiency
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Severe Combined Immune Deficiency
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SCID
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ADA-SCID
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Immune Deficiency
- Condition(s):
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Lung Diseases
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Intervention(s):
- None
- Supporting Site:
- National Heart, Lung and Blood Institute
- Contact(s):
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Patient Recruitment and Public Liaison Office
Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 Electronic Mail:prpl@mail.cc.nih.gov
- Citation(s):
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Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA
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Identification of the cystic fibrosis gene: chromosome walking and jumping
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Functions of the cystic fibrosis transmembrane conductance regulator protein
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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 05/05/2009
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