The Role of Bacteria and Genetic Variations in Cystic Fibrosis

This study is currently recruiting participants. (see Contacts and Locations)

Verified November 2014 by National Institutes of Health Clinical Center (CC)

Sponsor:

Information provided by (Responsible Party):

National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )

ClinicalTrials.gov Identifier:

NCT00043225

First received: July 13, 2006

Last updated: November 26, 2014

Last verified: November 2014

History of Changes

Purpose

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.

Condition
Lung Diseases


Study Type:	Observational
Official Title:	Clinical Course in Cystic Fibrosis: The Effects of Pseudomonas Aeruginosa and Potential Modifier Genes

Resource links provided by NLM:

Genetics Home Reference related topics: adenosine deaminase deficiency cystic fibrosis

MedlinePlus related topics: Cystic Fibrosis

Genetic and Rare Diseases Information Center resources: Adenosine Deaminase Deficiency Cystic Fibrosis

U.S. FDA Resources

Further study details as provided by National Institutes of Health Clinical Center (CC):


Estimated Enrollment:	200
Study Start Date:	June 2001

Detailed Description:

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.

Eligibility


Ages Eligible for Study:	9 Years to 80 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

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.

Contacts and Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00043225

Contacts


Contact: Mary Haughey, R.N.	(301) 496-3632	mhaughey@nhlbi.nih.gov
Contact: Joel Moss, M.D.	(301) 496-1597	mossj@nhlbi.nih.gov

Locations


United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike	Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 prpl@mail.cc.nih.gov
United States, Washington
University of Washington	Recruiting
Seattle, Washington, United States, 98195
United States, Wisconsin
University of Wisconsin	Recruiting
Madison, Wisconsin, United States, 53792
Medical College of Wisconsin	Recruiting
Milwaukee, Wisconsin, United States

Sponsors and Collaborators

National Heart, Lung, and Blood Institute (NHLBI)

Investigators


Principal Investigator:	Joel Moss, M.D.	National Heart, Lung, and Blood Institute (NHLBI)

More Information

Additional Information:

NIH Clinical Center Detailed Web Page This link exits the ClinicalTrials.gov site

Publications:

Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989 Sep 8;245(4922):1066-73. Erratum in: Science 1989 Sep 29;245(4925):1437.

Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989 Sep 8;245(4922):1059-65.

Frizzell RA. Functions of the cystic fibrosis transmembrane conductance regulator protein. Am J Respir Crit Care Med. 1995 Mar;151(3 Pt 2):S54-8. Review.


Responsible Party:	National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )
ClinicalTrials.gov Identifier:	NCT00043225 History of Changes
Other Study ID Numbers:	010198, 01-H-0198
Study First Received:	July 13, 2006
Last Updated:	November 26, 2014
Health Authority:	United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):


Type III Secretion Pathways Exotoxin A Polymorphisms Cystic Fibrosis and Pseudomonas Aeruginosa Adenosine Deaminase Deficiency	Severe Combined Immune Deficiency SCID ADA-SCID Immune Deficiency

Additional relevant MeSH terms:


Cystic Fibrosis Digestive System Diseases Genetic Diseases, Inborn Infant, Newborn, Diseases	Lung Diseases Pancreatic Diseases Respiratory Tract Diseases

ClinicalTrials.gov processed this record on March 03, 2015

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