Genomics and Metagenomics of Asthma Severity

NCT ID: NCT04501926

Last Updated: 2022-05-17

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-03-01

Study Completion Date

2023-12-31

Brief Summary

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The Genomics and Metagenomics of Asthma Severity (GEMAS) study aims to assess the role of genomics, the microbiome, and the interaction between them in the development of asthma exacerbations in European patients with asthma.

Detailed Description

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Asthma is a chronic inflammatory disease of the airways characterized by reversible airflow obstruction and a bronchial hyperreactivity in response to a variety of stimuli. In most patients, the onset of asthma symptoms may be controlled. However, many of them may manifest asthma attacks or crises of breathing called exacerbations, which occur with breathing problems, wheezing, coughing or tightness of chest, and may threaten their life. Such exacerbations are caused by a combination of environmental and genetic factors. However, since studies so far have been limited, a reduced number of genes associated with the predisposition to these complications have been identified. In addition, some studies have used next-generation DNA sequencing techniques to characterize the microbiome (i.e., microbial community) of the airways, finding changes related to asthma. The main hypothesis of the Genomics and Metagenomics of Asthma Severity (GEMAS) study is that exacerbations of asthma are caused by a combination of the intrinsic genetic factors of the individual, changes in the respiratory microbiome and the interaction between both factors. The objectives of this project are: 1) to identify genetic variants that are associated with asthma exacerbations; 2) to examine the changes occurring in the microbial communities of the oral cavity and respiratory tract in individuals with exacerbations; 3) to analyze the association of the host genetic variants and the microbiome changes related to exacerbations.

A total of 300 Spanish subjects with asthma with and without a history of asthma exacerbations in the past 12 months will be recruited. Saliva, nasal and pharyngeal samples will be collected to study the oral cavity and the upper respiratory tract microbiome through next-generation sequencing technologies. Sequencing of the 16S ribosomal RNA (16S rRNA) gene will allow to characterize the bacterial diversity and abundance, as well as to infer the functionality of the microbiome in each sample. These parameters will be used to establish correlations between the microbiome and the presence of asthma exacerbations. Finally, the association between the genetic variation associated with exacerbations in genomic studies and the measurements of abundance, diversity and functions related to exacerbations will be jointly examined.

Conditions

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Asthma Asthma Attack

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

RETROSPECTIVE

Study Groups

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Controls

Asthma patients who did not report asthma exacerbations in the 12 months prior recruitment, defined by one of the following events because of asthma: oral corticosteroids use, emergency room visits, and/or hospitalizations.

No interventions assigned to this group

Cases

Asthma patients that reported asthma exacerbations in the 12 months prior recruitment, defined by one of the following events because of asthma: oral corticosteroids use, emergency room visits, and/or hospitalizations.

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Male or female aged older or equal than 8 years and younger or equal than 85 years
* Physician diagnosis of asthma according to the Global Initiative for Asthma (GINA) guidelines
* Treated on GINA step 1-5

Exclusion Criteria

* One or more grandparents of non-European origin
* Pregnancy
* Coexistence of other chronic pulmonary disorders including cystic fibrosis, chronic obstructive pulmonary disease (emphysema or chronic bronchitis), or congenital disorders of the lungs or airways
* Known family relatedness (first or second degree) with another participant already included in the study
Minimum Eligible Age

8 Years

Maximum Eligible Age

85 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University of La Laguna

OTHER

Sponsor Role collaborator

Ministry of Science and Innovation, Spain

OTHER_GOV

Sponsor Role collaborator

Consorcio Centro de Investigación Biomédica en Red (CIBER)

OTHER_GOV

Sponsor Role collaborator

University Hospital of the Nuestra Señora de Candelaria

OTHER

Sponsor Role collaborator

Hospital Universitario de Canarias

OTHER

Sponsor Role collaborator

Hospital General de La Palma

UNKNOWN

Sponsor Role collaborator

Hospital Donostia

OTHER

Sponsor Role collaborator

Hospital Doctor Jose Molina Orosa

UNKNOWN

Sponsor Role collaborator

Maria Pino-Yanes

OTHER

Sponsor Role lead

Responsible Party

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Maria Pino-Yanes

Ramon y Cajal Fellow and Lecturer

Responsibility Role SPONSOR_INVESTIGATOR

Locations

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University of La Laguna

San Cristóbal de La Laguna, Santa Cruz De Tenerife, Spain

Site Status ACTIVE_NOT_RECRUITING

Hospital Doctor Jose Molina Orosa

Arrecife, , Spain

Site Status RECRUITING

Hospital General de La Palma

Breña Alta, , Spain

Site Status RECRUITING

Hospital Universitario de Canarias

San Cristóbal de La Laguna, , Spain

Site Status RECRUITING

Hospital Universitario Donostia

San Sebastián, , Spain

Site Status RECRUITING

Hospital Universitario Nuestra Señora de Candelaria

Santa Cruz de Tenerife, , Spain

Site Status RECRUITING

Countries

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Spain

Central Contacts

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Maria Pino-Yanes, Ph.D.

Role: CONTACT

+34 922 316 502 ext. 6343

Fabian Lorenzo-Diaz, Ph.D.

Role: CONTACT

+34 922 316 502 ext. 8350

Facility Contacts

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Berta Roman-Bernal, MD

Role: primary

Jose M Hernandez-Perez, MD, Ph.D.

Role: primary

Ruperto Gonzalez-Perez, MD, Ph.D.

Role: primary

Olaia Sardon, MD, Ph.D.

Role: primary

Jose M Hernandez-Perez, MD, Ph.D.

Role: primary

Other Identifiers

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PI-29/17

Identifier Type: -

Identifier Source: org_study_id

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