Genetic Study of Familial Forms of Non-atopic Asthma (GANA)

January 15, 2021 updated by: Nantes University Hospital

The intrinsic asthma (atopic or not) is a particular phenotype marked by an early later symptoms, increased severity, sensitivity associated with nonsteroidal anti-inflammatory drugs (NSAIDs), a sinonasal polyposis and eosinophilia.

Unlike allergic asthma, this form does not today demonstrated its genetic character. However, the existence of familial forms of asthma in this region Pays de La Loire led us to hypothesize the existence of genetic variations can explain some familial forms of non-atopic asthma. Corresponding genes may be relevant to understanding the pathophysiological pathways involved in the more common sporadic forms.

The investigators propose a study combining genetic linkage analysis and complete sequencing exomes to identify one or more genetic abnormalities associated with non-atopic asthma. The clinical stage essential for mutation identification is to identify and recruit large families with members affected by non-atopic asthma and ensure accurate phenotyping of all individuals recruited over several generations.

The aim of this study is to create a cohort of families who have more members within them non-atopic asthma. A high genetic combined exome sequencing throughput analysis in a family linkage study will then reveal the presence or absence of genetic variations associated with intrinsic asthma.

Study Overview

Status

Terminated

Conditions

Intervention / Treatment

Detailed Description

Patients with non-atopic asthma will be identified in consultation pulmonology at Laennec Hospital (CHU Nantes) from the consultant population to severe asthma.

These patients will be treated as index case.

The investigator will conduct a family tree of the index case to identify families where the number of healthy individuals and those with non-atopic asthma makes relevant a family genetic study. Before initiating the family screening, it is necessary to have notion of at least two individuals carrying non-atopic asthma at least two generations in the family.

Related agreeing to participate in this study will be included.

Study Type

Interventional

Enrollment (Actual)

2

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Nantes, France, 44000
        • CHU de Nantes - Service de Pneumologie - HGRL

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

Inclusion Criteria:

  • index case:

    • Major
    • Lack of respiratory disease documented in the medical record other than asthma
    • Severe Asthma by definition ATS / ERS 2014:
  • Treatment with high doses of CI and beta2 agonists for long-acting (B2LDA) or anti leukotriene or theophylline during the previous year or oral corticosteroids (CO) more than 50% from the previous year to prevent loss of control asthma.

  • Asthma "uncontrolled" (at least 1 criteria):

    • ACT <20 and / or ACQ> 1.5 (Asthma Control Test)
    • 2 courses or more CO in the previous year
    • 1 hospitalization for asthma in the previous year
    • FEV <80% predicted despite bronchodilators.
  • Examination or medical record to find at least one member of the genetically non-atopic asthma associated family
  • Prick negative tests for common allergens, questionnaire seeking negative atopy (SFAR Love) Phadiatop or negative diagnosis of non-atopic asthma confirmed by the adjudication committee
  • informed and written consent of the patient to participate in the study
  • Affiliated to a social security scheme

Exclusion Criteria:

  • Pregnant women

  • Minors

    - Known associated respiratory pathologies (COPD, bronchial dilatation, diffuse infiltrating pneumopathy)

  • Major Trust
  • Subject having demonstrated the inability or refusal to sign an informed consent

Relatives' patients:

  • Major
  • Related to the 1st and 2nd level of the index case or another member with family
  • Related with or without a asthma (atopic or non-atopic)
  • Informed and written consent of the patient to participate in the study Affiliated to a social security scheme

Exclusion Criteria:

  • Pregnant women
  • Minors
  • Major Trust
  • Subject having demonstrated the inability or refusal to sign an informed consent

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Other
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: blood sample for genetic evaluation
a blood sample is collected once for genetic analysis
Genetic: demonstration of genetic mutations causing non-atopic asthma
recruitment of familial forms of non-atopic asthma (patients with non-atopic asthma and their relatives) to perform genetic analysis of exome sequencing

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
broadband genetic and fine characterization of the phenotype in familial forms.
Time Frame: 36 months
36 months

Secondary Outcome Measures

Outcome Measure
Time Frame
Identification of a homogeneous group of non-atopic asthma patients
Time Frame: 36 months
36 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Nantes University Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 26, 2020

Primary Completion (Actual)

February 26, 2020

Study Completion (Actual)

February 26, 2020

Study Registration Dates

First Submitted

September 9, 2016

First Submitted That Met QC Criteria

September 20, 2016

First Posted (Estimate)

September 22, 2016

Study Record Updates

Last Update Posted (Actual)

January 20, 2021

Last Update Submitted That Met QC Criteria

January 15, 2021

Last Verified

January 1, 2021

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • RC15_0354
  • 2016-A00922-49 (Other Identifier: ANSM)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Non-atopic Asthma

Clinical Trials on demonstration of genetic mutations causing non-atopic asthma

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Greece

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe