The Role of Bacteria and Genetic Variations in Cystic Fibrosis

Status:	Completed
Conditions:	Pulmonary
Therapuetic Areas:	Pulmonary / Respiratory Diseases
Healthy:	No
Age Range:	9 - 80
Updated:	3/1/2019
Start Date:	June 20, 2001

Clinical Course in Cystic Fibrosis: The Effects of Pseudomonas Aeruginosa and Potential Modifier Genes

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.

Individuals with cystic fibrosis (CF) are susceptible to chronic bacterial colonization by
Pseudomonas aeruginosa, which results in deterioration of lung function and, eventually,
death. In this study, we hope to improve our understanding of the innate immune response to
infection by strains of P. aeruginosa that express type III cytotoxins and to delineate
better the role of modifier genes in disease progression.

We will examine relationships between the patient's clinical course, the presence of
antibodies to P. aeruginosa, and single nucleotide polymorphisms in suspected CF modifier
genes.

- 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.

We found this trial at

sites

National Institutes of Health Clinical Center, 9000 Rockville Pike

9000 Rockville Pike
Bethesda, Maryland 20892

Phone: 800-411-1222

from

Bethesda, MD