search
Back to results

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

Primary Purpose

Non-atopic Asthma, Genetic Study

Status
Terminated
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
demonstration of genetic mutations causing non-atopic asthma
Sponsored by
Nantes University Hospital
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional other trial for Non-atopic Asthma

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesAccepts Healthy Volunteers

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

Sites / Locations

  • CHU de Nantes - Service de Pneumologie - HGRL

Arms of the Study

Arm 1

Arm Type

Other

Arm Label

blood sample for genetic evaluation

Arm Description

a blood sample is collected once for genetic analysis

Outcomes

Primary Outcome Measures

broadband genetic and fine characterization of the phenotype in familial forms.

Secondary Outcome Measures

Identification of a homogeneous group of non-atopic asthma patients

Full Information

First Posted
September 9, 2016
Last Updated
January 15, 2021
Sponsor
Nantes University Hospital
search

1. Study Identification

Unique Protocol Identification Number
NCT02911220
Brief Title
Genetic Study of Familial Forms of Non-atopic Asthma
Acronym
GANA
Official Title
Genetic Study of Familial Forms of Non-atopic Asthma
Study Type
Interventional

2. Study Status

Record Verification Date
January 2021
Overall Recruitment Status
Terminated
Why Stopped
not enough available families to get significant genetic results
Study Start Date
February 26, 2020 (Actual)
Primary Completion Date
February 26, 2020 (Actual)
Study Completion Date
February 26, 2020 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Nantes University Hospital

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. Study Description

Brief Summary
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.
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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Non-atopic Asthma, Genetic Study

7. Study Design

Primary Purpose
Other
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
2 (Actual)

8. Arms, Groups, and Interventions

Arm Title
blood sample for genetic evaluation
Arm Type
Other
Arm Description
a blood sample is collected once for genetic analysis
Intervention Type
Genetic
Intervention Name(s)
demonstration of genetic mutations causing non-atopic asthma
Intervention Description
recruitment of familial forms of non-atopic asthma (patients with non-atopic asthma and their relatives) to perform genetic analysis of exome sequencing
Primary Outcome Measure Information:
Title
broadband genetic and fine characterization of the phenotype in familial forms.
Time Frame
36 months
Secondary Outcome Measure Information:
Title
Identification of a homogeneous group of non-atopic asthma patients
Time Frame
36 months

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
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
Facility Information:
Facility Name
CHU de Nantes - Service de Pneumologie - HGRL
City
Nantes
ZIP/Postal Code
44000
Country
France

12. IPD Sharing Statement

Learn more about this trial

Genetic Study of Familial Forms of Non-atopic Asthma

We'll reach out to this number within 24 hrs