The Role of Bacteria and Genetic Variations in Cystic Fibrosis

NCT00043225 | Completed

• 2 other identifiers: 01019801-H-0198
• Study Type: observational
• Target: 76
• Locations: 1 country
• Sites: 4

Brief 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. ...

Conditions

Psuedomas Infection; Cystic Fibrosis

Keywords

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

Outcome Measures

Primary Outcomes (1)

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

  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.

  End of study

Secondary Outcomes (1)

• 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...

  End of Study

Study Arms (1)

Cystic Fibrosis

Cystic Fibrosis patients

Eligibility Criteria

• Age: 9 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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.@@@

You may qualify if:

• 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.

Sponsors & Collaborators

• National Heart, Lung, and Blood Institute (NHLBI): lead

Study Sites (4)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

University of Washington

Seattle, Washington, 98195, United States

Location

University of Wisconsin

Madison, Wisconsin, 53792, United States

Location

Medical College of Wisconsin

Milwaukee, Wisconsin, United States

Location

Related Publications (3)

• 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. doi: 10.1126/science.2475911.

  PMID: 2475911 BACKGROUND

• 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. doi: 10.1126/science.2772657.

  PMID: 2772657 BACKGROUND

• 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. doi: 10.1164/ajrccm/151.3_Pt_2.S54.

  PMID: 7533606 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Cystic Fibrosis; Pseudomonas Infections; Severe combined immunodeficiency due to adenosine deaminase deficiency; Severe Combined Immunodeficiency; Immunologic Deficiency Syndromes

Condition Hierarchy (Ancestors)

Pancreatic Diseases; Digestive System Diseases; Lung Diseases; Respiratory Tract Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases; Gram-Negative Bacterial Infections; Bacterial Infections; Bacterial Infections and Mycoses; Infections; Primary Immunodeficiency Diseases; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Immune System Diseases

Study Officials

• Joel Moss, M.D.

  National Heart, Lung, and Blood Institute (NHLBI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 13, 2006
• First Posted: August 7, 2002
• Study Start: June 20, 2001
• Primary Completion: July 10, 2018
• Study Completion: July 10, 2018
• Last Updated: June 29, 2021

Record last verified: 2021-06

Locations

US (4)