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Trial record 23 of 198 for:    Genetic AND exome sequencing

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

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ClinicalTrials.gov Identifier: NCT02911220
Recruitment Status : Not yet recruiting
First Posted : September 22, 2016
Last Update Posted : September 22, 2016
Sponsor:
Information provided by (Responsible Party):
Nantes University Hospital

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.


Condition or disease Intervention/treatment Phase
Non-atopic Asthma Genetic Study Genetic: demonstration of genetic mutations causing non-atopic asthma Not Applicable

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.


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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 63 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Official Title: Genetic Study of Familial Forms of Non-atopic Asthma
Study Start Date : September 2016
Estimated Primary Completion Date : September 2019
Estimated Study Completion Date : September 2019

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Asthma


Intervention Details:
  • 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


Primary Outcome Measures :
  1. broadband genetic and fine characterization of the phenotype in familial forms. [ Time Frame: 36 months ]

Secondary Outcome Measures :
  1. Identification of a homogeneous group of non-atopic asthma patients [ Time Frame: 36 months ]


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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
  • Written consent to participate in the collection of biological samples

Relatives' patients:

  • Major
  • Related to the 1st and 2nd level of the index case or another member with family
  • Related with or without a non-atopic asthma
  • Informed and written consent of the patient to participate in the study
  • Written consent to participate in the collection of biological samples Google Traduction pour les entreprises: Google Kit du traducteurGadget TraductionOutil d'aide à l'export

Exclusion Criteria:

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02911220


Contacts
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Contact: Antoine Magnan, Pr 02 40 16 55 33 antoine.magnan@univ-nantes.fr
Contact: Richard Redon

Locations
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France
CHU de Nantes - Service de Pneumologie - HGRL Not yet recruiting
Nantes, France, 44000
Contact: Antoine Magnan, Pr       antoine.magnan@univ-nantes.fr   
Contact: Richard Redon, Dr       richard.redon@univ-nantes.fr   
Sponsors and Collaborators
Nantes University Hospital

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Responsible Party: Nantes University Hospital
ClinicalTrials.gov Identifier: NCT02911220     History of Changes
Other Study ID Numbers: RC15_0354
2016-A00922-49 ( Other Identifier: ANSM )
First Posted: September 22, 2016    Key Record Dates
Last Update Posted: September 22, 2016
Last Verified: September 2016

Additional relevant MeSH terms:
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Asthma
Bronchial Diseases
Respiratory Tract Diseases
Lung Diseases, Obstructive
Lung Diseases
Respiratory Hypersensitivity
Hypersensitivity, Immediate
Hypersensitivity
Immune System Diseases