The Role of Bacteria and Genetic Variations in Cystic Fibrosis

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.

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Key information

Conditions

Psuedomas Infection Bacterial Infections Bacterial Infections and Mycoses Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cystic Fibrosis DNA Repair-Deficiency Disorders Digestive System Diseases Genetic Diseases, Inborn Gram-Negative Bacterial Infections Immune System Diseases Immunologic Deficiency Syndromes Infant, Newborn, Diseases Infections Lung Diseases Metabolic Diseases Nutritional and Metabolic Diseases Pancreatic Diseases Primary Immunodeficiency Diseases Pseudomonas Infections Respiratory Tract Diseases Severe Combined Immunodeficiency Severe combined immunodeficiency due to adenosine deaminase deficiency

Age range

9 year–80 year

Sex eligibility

All sexes

Study type

Observational

Primary location

National Institutes of Health Clinical Center, 9000 Rockville Pike, Bethesda, Maryland, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

There is a relationship between the virulence characteristics of P.aeruginosa involved inpersistent infection of the lung and the genetic profile of CF patients.

Time frame: End of study

There is a relationship between the virulence characteristics of P.aeruginosa involved in persistent infection of the lung and the genetic profile of CF patients.

Secondary outcomes

Antibodies to the components of the type III secretion pathway can be used as an accurate measure of acute infection and colonization of the CF lung by virulent strains of P. aeruginosa. There is a relationship between modifier genotypes and sur...

Time frame: End of Study

Antibodies to the components of the type III secretion pathway can be used as an accurate measure of acute infection and colonization of the CF lung by virulent strains of P. aeruginosa. There is a relationship between modifier genotypes and survival or other measurable CF disease outcomes. 4. The bactericidal activity of sera from CF patients will neutralize components of the Type III pathway

Sponsors and collaborators

Lead sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Nih

Registry information

Official study title

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

Important dates

Study start: 2001
Primary completion: 2018
Study completion: 2018
First posted: Aug 7, 2002
Registry last updated: Jun 29, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

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