Asthma With Hypersecretion-associated Gene for Cystic Fibrosis (CF-asthma)

Asthma With Hypersecretion-associated Gene for Cystic Fibrosis Clinical, Inflammatory and Genetics Characterization

The combination of asthma and being a carrier of genetic variants (mutations and / or polymorphisms) in the CFTR gene variant would cause bronchial asthma with mucus hypersecretion. This phenotype is characterized by a more severe disease, in terms of control, quality of life, exacerbations and lung function, and a different asthma the bronchial hypersecretion without inflammatory phenotype.

Study Overview

• Status: Completed
• Conditions: Asthma
• Intervention / Treatment: Genetic: Asthma patients

Detailed Description

Primary objective:

Determine the presence of genetic variants (mutations and / or polymorphisms) of the CFTR gene in patients with asthma with or without bronchial mucus hypersecretion.

Secondary objectives:

To identify genetic variants (mutations and / or polymorphisms) of the most common CFTR gene in the asthmatic population. -To define the inflammatory phenotype of asthma with bronchial mucus hypersecretion. -To compare the severity, control, quality of life and frequency of exacerbations of asthma patients with or without bronchial mucus hypersecretion

• Study Type: Observational
• Enrollment (Actual): 100

Contacts and Locations

Study Locations

• Spain
  • Barcelona, Spain, 08041
    • Hospital de la Santa Creu i Sant Pau. Carrer Mas Casanovas 90.

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 80 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

A total of 100 asthmatic patients of both sexes, aged between 18 and 80 years will be included in the study. They have not a respiratory infection in the last month. Of the 100 patients, 50 will be hypersecretory asthmatic patients and 50 non- hypersecretory asthmatic patients. Both groups have an even distribution regarding sex, age, level and disease control. Asthma patients were defined according to the criteria of the GEMA 2015 -GINA 2014

Description

Inclusion criteria: Asthmatic patients aged between 18 and 80 years.They have not a respiratory infection in the last month.

Criteria for exclusion: Presence of other lung disease, Sequelae of tuberculosis, Bronchiectasis (large, secondary to a different asthma respiratory disease), Cystic fibrosis, Residual pleural disease, Interstitial diseases, Severe comorbidity, Patients with oral corticosteroids or other immunomodulators by causes other than asthma.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Cross-Sectional

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
50 asthma patients; 50 asthma patients with bronchial mucus hypersecretion	Genetic: Asthma patients; Patients with inclusion criteria, following examinations: a study of lung function measurement of the fraction of nitric oxide in exhaled air, induced sputum, sputum, and extraction of peripheral venous blood for Study of genetic variants in the CFTR gene,skin prick test . The number of eosinophils in peripheral blood by automated cell counting and Total IgE by ELISA were measured. Furthermore, the level of asthma control be assessed by validated symptom questionnaire Asthma Control Test, quality of life is determined by the MiniAQLQ questionnaire.
asthma patients; 50 asthma patients without bronchial mucus hypersecretion	Genetic: Asthma patients; Patients with inclusion criteria, following examinations: a study of lung function measurement of the fraction of nitric oxide in exhaled air, induced sputum, sputum, and extraction of peripheral venous blood for Study of genetic variants in the CFTR gene,skin prick test . The number of eosinophils in peripheral blood by automated cell counting and Total IgE by ELISA were measured. Furthermore, the level of asthma control be assessed by validated symptom questionnaire Asthma Control Test, quality of life is determined by the MiniAQLQ questionnaire.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Number of asthmatic patients CF carriers	12 months

Secondary Outcome Measures

Outcome Measure	Time Frame
Noncarriers number of asthmatics	12 months

Collaborators and Investigators

• Sponsor: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
• Investigators: Principal Investigator: Astrid Crespo, Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau - IIB Sant Pau

Publications and helpful links

General Publications

• Goodwin J, Spitale N, Yaghi A, Dolovich M, Nair P. Cystic fibrosis transmembrane conductance regulator gene abnormalities in patients with asthma and recurrent neutrophilic bronchitis. Can Respir J. 2012 Jan-Feb;19(1):46-8. doi: 10.1155/2012/546702.
• Dahl M, Tybjaerg-Hansen A, Lange P, Nordestgaard BG. DeltaF508 heterozygosity in cystic fibrosis and susceptibility to asthma. Lancet. 1998 Jun 27;351(9120):1911-3. doi: 10.1016/s0140-6736(97)11419-2. Erratum In: Lancet 1998 Oct 10;352(9135):1230.
• Dahl M, Nordestgaard BG, Lange P, Tybjaerg-Hansen A. Fifteen-year follow-up of pulmonary function in individuals heterozygous for the cystic fibrosis phenylalanine-508 deletion. J Allergy Clin Immunol. 2001 May;107(5):818-23. doi: 10.1067/mai.2001.114117.

Study record dates

Study Major Dates

• Study Start: May 1, 2015
• Primary Completion (Actual): February 1, 2016
• Study Completion (Actual): June 1, 2016

Study Registration Dates

• First Submitted: June 15, 2015
• First Submitted That Met QC Criteria: September 22, 2015
• First Posted (Estimate): September 23, 2015

Study Record Updates

• Last Update Posted (Estimate): October 19, 2016
• Last Update Submitted That Met QC Criteria: October 18, 2016
• Last Verified: February 1, 2016

More Information

Terms related to this study

• Keywords: asthma; cystic fibrosis
• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Respiratory Tract Diseases; Immune System Diseases; Lung Diseases; Hypersensitivity, Immediate; Infant, Newborn, Diseases; Bronchial Diseases; Genetic Diseases, Inborn; Lung Diseases, Obstructive; Respiratory Hypersensitivity; Hypersensitivity; Pancreatic Diseases; Fibrosis; Asthma; Cystic Fibrosis
• Other Study ID Numbers: IIBSP-CFT-2014-68; ESR-15-10784 (Registry Identifier: AstraZeneca)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No