Genetic Study of Familial Forms of Non-atopic Asthma (GANA)
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|ClinicalTrials.gov Identifier: NCT02911220|
Recruitment Status : Terminated (not enough available families to get significant genetic results)
First Posted : September 22, 2016
Last Update Posted : January 20, 2021
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|
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 (Clinical Trial)|
|Actual Enrollment :||2 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Genetic Study of Familial Forms of Non-atopic Asthma|
|Actual Study Start Date :||February 26, 2020|
|Actual Primary Completion Date :||February 26, 2020|
|Actual Study Completion Date :||February 26, 2020|
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
- broadband genetic and fine characterization of the phenotype in familial forms. [ Time Frame: 36 months ]
- Identification of a homogeneous group of non-atopic asthma patients [ Time Frame: 36 months ]
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
|CHU de Nantes - Service de Pneumologie - HGRL|
|Nantes, France, 44000|