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:

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).

EXCLUSION CRITERIA:

There are no exclusion criteria.

Special Instructions:

Currently Not Provided

Keywords:

Type III Secretion Pathways

Exotoxin A Polymorphisms

Cystic Fibrosis and Pseudomonas aeruginosa

Recruitment Keyword(s):

Adenosine Deaminase Deficiency

Severe Combined Immune Deficiency

SCID

ADA-SCID

Immune Deficiency

Condition(s):

Lung Diseases

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Heart, Lung and Blood Institute

Contact(s):

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):

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

Identification of the cystic fibrosis gene: chromosome walking and jumping

Functions of the cystic fibrosis transmembrane conductance regulator protein

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Clinical Research Informatics, CC.

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National Institutes of Health Clinical Center Bethesda, Maryland 20892. Last update: 01/13/2009