NCT02911220

Genetic Study of Familial Forms of Non-atopic Asthma

• Status: Terminated
• Phase: N/A
• Study type: Interventional
• Enrollment: 2 (actual)
• Sponsor: Nantes University Hospital · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

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.

Conditions

• Non-atopic Asthma
• Genetic Study

Interventions

Type	Name	Description
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

Timeline

• Start date: 2020-02-26
• Primary completion: 2020-02-26
• Completion: 2020-02-26
• First posted: 2016-09-22
• Last updated: 2021-01-20

Locations

1 site across 1 country: France